Canonical Allele Identifier: CA384317865

Gene: SOX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.23640898C>G , CM000674.2:g.23640898C>G	GRCh38
NC_000012.11:g.23793832C>G , CM000674.1:g.23793832C>G	GRCh37
NC_000012.10:g.23685099C>G	NCBI36
NG_029612.1:g.926549G>C
NG_029612.2:g.926549G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006940.6:c.932-1G>C MANE Select	NP_008871.3:n.932-1G>C
ENST00000451604.7:c.932-1G>C MANE Select	ENSP00000398273.2:n.932-1G>C
NM_001261414.1:c.893-1G>C	NP_001248343.1:n.893-1G>C
NM_001261414.2:c.893-1G>C	NP_001248343.1:n.893-1G>C
NM_001261414.3:c.893-1G>C	NP_001248343.1:n.893-1G>C
NM_001261415.1:c.902-1G>C	NP_001248344.1:n.902-1G>C
NM_001261415.2:c.902-1G>C	NP_001248344.1:n.902-1G>C
NM_001261415.3:c.902-1G>C	NP_001248344.1:n.902-1G>C
NM_001330785.1:c.827-1G>C	NP_001317714.1:n.827-1G>C
NM_001330785.2:c.827-1G>C	NP_001317714.1:n.827-1G>C
NM_006940.4:c.932-1G>C	NP_008871.3:n.932-1G>C
NM_006940.5:c.932-1G>C	NP_008871.3:n.932-1G>C
NM_152989.3:c.893-1G>C	NP_694534.1:n.893-1G>C
NM_152989.4:c.893-1G>C	NP_694534.1:n.893-1G>C
NM_152989.5:c.893-1G>C	NP_694534.1:n.893-1G>C
ENST00000367206.7:c.902-1G>C	ENSP00000356174.3:n.902-1G>C
ENST00000381381.6:c.893-1G>C	ENSP00000370788.2:n.893-1G>C
ENST00000451604.6:c.932-1G>C	ENSP00000398273.2:n.932-1G>C
ENST00000535530.5:n.256-1G>C
ENST00000536629.5:n.312-1G>C
ENST00000536911.1:n.157-1G>C
ENST00000537393.5:c.827-1G>C	ENSP00000439832.1:n.827-1G>C
ENST00000541536.5:c.893-1G>C	ENSP00000441973.1:n.893-1G>C
ENST00000545921.5:c.902-1G>C	ENSP00000443520.1:n.902-1G>C
ENST00000546136.5:c.893-1G>C	ENSP00000437487.1:n.893-1G>C
ENST00000646273.1:c.893-1G>C	ENSP00000493866.1:n.893-1G>C
ENST00000704298.1:c.893-1G>C	ENSP00000515822.1:n.893-1G>C
ENST00000704299.1:c.788-1G>C	ENSP00000515823.1:n.788-1G>C
XM_006719149.2:c.893-1G>C	XP_006719212.1:n.893-1G>C
XM_011520831.1:c.827-1G>C	XP_011519133.1:n.827-1G>C
XM_011520832.1:c.935-1G>C	XP_011519134.1:n.935-1G>C
XM_011520832.2:c.935-1G>C	XP_011519134.1:n.935-1G>C
XM_011520833.1:c.905-1G>C	XP_011519135.1:n.905-1G>C
XM_011520833.2:c.905-1G>C	XP_011519135.1:n.905-1G>C
XM_011520834.1:c.896-1G>C	XP_011519136.1:n.896-1G>C
XM_011520834.2:c.896-1G>C	XP_011519136.1:n.896-1G>C
XM_011520835.1:c.896-1G>C	XP_011519137.1:n.896-1G>C
XM_011520835.2:c.896-1G>C	XP_011519137.1:n.896-1G>C
XM_011520836.1:c.896-1G>C	XP_011519138.1:n.896-1G>C
XM_011520837.1:c.896-1G>C	XP_011519139.1:n.896-1G>C
XM_011520837.2:c.896-1G>C	XP_011519139.1:n.896-1G>C
XM_011520838.1:c.830-1G>C	XP_011519140.1:n.830-1G>C
XM_011520838.2:c.830-1G>C	XP_011519140.1:n.830-1G>C
XM_011520839.1:c.788-1G>C	XP_011519141.1:n.788-1G>C
XM_011520840.1:c.98-1G>C	XP_011519142.1:n.98-1G>C
XM_011520841.1:c.98-1G>C	XP_011519143.1:n.98-1G>C
XM_011520843.1:c.98-1G>C	XP_011519145.1:n.98-1G>C
XM_017019888.1:c.1022-1G>C	XP_016875377.1:n.1022-1G>C
XM_017019889.1:c.1019-1G>C	XP_016875378.1:n.1019-1G>C
XM_017019890.1:c.896-1G>C	XP_016875379.1:n.896-1G>C
XM_017019891.1:c.896-1G>C	XP_016875380.1:n.896-1G>C
XM_017019892.1:c.896-1G>C	XP_016875381.1:n.896-1G>C
XM_017019893.1:c.896-1G>C	XP_016875382.1:n.896-1G>C
XM_017019894.1:c.896-1G>C	XP_016875383.1:n.896-1G>C
XM_017019895.1:c.896-1G>C	XP_016875384.1:n.896-1G>C
XM_017019896.1:c.893-1G>C	XP_016875385.1:n.893-1G>C
XM_017019897.1:c.791-1G>C	XP_016875386.1:n.791-1G>C
XM_017019898.1:c.788-1G>C	XP_016875387.1:n.788-1G>C
XM_017019899.1:c.788-1G>C	XP_016875388.1:n.788-1G>C
XM_017019900.1:c.788-1G>C	XP_016875389.1:n.788-1G>C
XM_017019901.1:c.788-1G>C	XP_016875390.1:n.788-1G>C
XM_017019902.1:c.935-1G>C	XP_016875391.1:n.935-1G>C
XM_017019903.1:c.932-1G>C	XP_016875392.1:n.932-1G>C
XM_024449150.1:c.896-1G>C	XP_024304918.1:n.896-1G>C
XM_024449151.1:c.896-1G>C	XP_024304919.1:n.896-1G>C
XM_024449152.1:c.896-1G>C	XP_024304920.1:n.896-1G>C
XM_024449153.1:c.896-1G>C	XP_024304921.1:n.896-1G>C
XM_024449154.1:c.896-1G>C	XP_024304922.1:n.896-1G>C
XM_024449155.1:c.896-1G>C	XP_024304923.1:n.896-1G>C
XM_024449157.1:c.896-1G>C	XP_024304925.1:n.896-1G>C
XM_024449158.1:c.896-1G>C	XP_024304926.1:n.896-1G>C
XM_024449159.1:c.896-1G>C	XP_024304927.1:n.896-1G>C
XM_024449160.1:c.893-1G>C	XP_024304928.1:n.893-1G>C
XM_024449161.1:c.893-1G>C	XP_024304929.1:n.893-1G>C
XM_024449163.1:c.791-1G>C	XP_024304931.1:n.791-1G>C
XM_024449164.1:c.791-1G>C	XP_024304932.1:n.791-1G>C
XM_024449165.1:c.791-1G>C	XP_024304933.1:n.791-1G>C