Canonical Allele Identifier: CA2838444190

Gene: SOX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24422372G>C , CM000674.2:g.24422372G>C	GRCh38
NC_000012.11:g.24575306G>C , CM000674.1:g.24575306G>C	GRCh37
NC_000012.10:g.24466573G>C	NCBI36
NG_029612.1:g.145075C>G
NG_029612.2:g.145075C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704298.1:c.-332-14806C>G	ENSP00000515822.1:n.-332-14806C>G
ENST00000704300.1:c.-257-14806C>G	ENSP00000515824.1:n.-257-14806C>G
ENST00000429944.6:n.338-14806C>G
ENST00000446891.7:c.-250-53733C>G	ENSP00000494627.1:n.-250-53733C>G
ENST00000456299.2:n.388+38224C>G
ENST00000538905.1:n.46-14806C>G
ENST00000646273.1:c.-332-14806C>G	ENSP00000493866.1:n.-332-14806C>G
ENST00000659413.1:c.-406-14806C>G	ENSP00000499309.1:n.-406-14806C>G
NM_001261414.1:c.-332-14806C>G	NP_001248343.1:n.-332-14806C>G
NM_152989.3:c.-257-14806C>G	NP_694534.1:n.-257-14806C>G
XM_011520834.1:c.-321-14806C>G	XP_011519136.1:n.-321-14806C>G
XM_011520835.1:c.-257-14806C>G	XP_011519137.1:n.-257-14806C>G
XM_011520836.1:c.-321-14806C>G	XP_011519138.1:n.-321-14806C>G
XM_011520839.1:c.-321-14806C>G	XP_011519141.1:n.-321-14806C>G
NM_001261414.2:c.-332-14806C>G	NP_001248343.1:n.-332-14806C>G
NM_152989.4:c.-257-14806C>G	NP_694534.1:n.-257-14806C>G
XM_011520834.2:c.-321-14806C>G	XP_011519136.1:n.-321-14806C>G
XM_011520835.2:c.-257-14806C>G	XP_011519137.1:n.-257-14806C>G
XM_017019890.1:c.-332-14806C>G	XP_016875379.1:n.-332-14806C>G
XM_017019891.1:c.-332-14806C>G	XP_016875380.1:n.-332-14806C>G
XM_017019892.1:c.-332-14806C>G	XP_016875381.1:n.-332-14806C>G
XM_017019893.1:c.-160-14806C>G	XP_016875382.1:n.-160-14806C>G
XM_017019896.1:c.-332-14806C>G	XP_016875385.1:n.-332-14806C>G
XM_017019897.1:c.-332-14806C>G	XP_016875386.1:n.-332-14806C>G
XM_017019898.1:c.-332-14806C>G	XP_016875387.1:n.-332-14806C>G
XM_017019899.1:c.-257-14806C>G	XP_016875388.1:n.-257-14806C>G
XM_024449150.1:c.-332-14806C>G	XP_024304918.1:n.-332-14806C>G
XM_024449151.1:c.-332-14806C>G	XP_024304919.1:n.-332-14806C>G
XM_024449152.1:c.-321-14806C>G	XP_024304920.1:n.-321-14806C>G
XM_024449153.1:c.-476-14806C>G	XP_024304921.1:n.-476-14806C>G
XM_024449154.1:c.-235-14806C>G	XP_024304922.1:n.-235-14806C>G
XM_024449155.1:c.-257-14806C>G	XP_024304923.1:n.-257-14806C>G
XM_024449157.1:c.-250-53733C>G	XP_024304925.1:n.-250-53733C>G
XM_024449158.1:c.-250-53733C>G	XP_024304926.1:n.-250-53733C>G
XM_024449159.1:c.-239-53733C>G	XP_024304927.1:n.-239-53733C>G
XM_024449160.1:c.-250-53733C>G	XP_024304928.1:n.-250-53733C>G
XM_024449161.1:c.-250-53733C>G	XP_024304929.1:n.-250-53733C>G
XM_024449163.1:c.-332-14806C>G	XP_024304931.1:n.-332-14806C>G
XM_024449164.1:c.-332-14806C>G	XP_024304932.1:n.-332-14806C>G
XM_024449165.1:c.-250-53733C>G	XP_024304933.1:n.-250-53733C>G
NM_001261414.3:c.-332-14806C>G	NP_001248343.1:n.-332-14806C>G
NM_152989.5:c.-257-14806C>G	NP_694534.1:n.-257-14806C>G