Canonical Allele Identifier: CA412989923

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390266C>A (hg19) ; chrX:g.41531013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531013C>A , CM000685.2:g.41531013C>A	GRCh38
NC_000023.10:g.41390266C>A , CM000685.1:g.41390266C>A	GRCh37
NC_000023.9:g.41275210C>A	NCBI36
NG_016754.1:g.397022G>T
NG_016754.2:g.397022G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2463G>T	ENSP00000367396.2:p.Glu821Asp
ENST00000378158.6:c.2460G>T	ENSP00000367400.2:p.Glu820Asp
ENST00000378163.7:c.2514G>T MANE Select	ENSP00000367405.1:p.Glu838Asp
ENST00000378166.9:c.2412G>T	ENSP00000367408.5:p.Glu804Asp
ENST00000378168.8:c.2517G>T	ENSP00000367410.4:p.Glu839Asp
ENST00000378179.9:c.1134G>T	ENSP00000367421.4:p.Glu378Asp
ENST00000421587.8:c.2445G>T	ENSP00000400526.4:p.Glu815Asp
ENST00000442742.7:c.2376G>T	ENSP00000398007.3:p.Glu792Asp
ENST00000642499.1:n.1293G>T
ENST00000643733.1:c.286G>T
ENST00000644219.1:c.2496G>T	ENSP00000495357.1:p.Glu832Asp
ENST00000644347.1:c.2427G>T	ENSP00000494183.1:p.Glu809Asp
ENST00000645566.1:c.2499G>T	ENSP00000494788.1:p.Glu833Asp
ENST00000645937.2:n.2745G>T
ENST00000645986.2:c.2481G>T	ENSP00000494409.2:p.Glu827Asp
ENST00000646087.2:c.1836G>T	ENSP00000495510.2:p.Glu612Asp
ENST00000646120.2:c.2430G>T	ENSP00000495291.2:p.Glu810Asp
ENST00000675354.1:c.2448G>T	ENSP00000502315.1:p.Glu816Asp
ENST00000378158.5:c.2463G>T	ENSP00000367400.1:p.Glu821Asp
ENST00000378163.5:c.2514G>T	ENSP00000367405.1:p.Glu838Asp
ENST00000378166.8:c.2499G>T	ENSP00000367408.4:p.Glu833Asp
ENST00000378168.6:c.879G>T	ENSP00000367410.2:p.Glu293Asp
ENST00000378179.7:c.1290G>T	ENSP00000367421.3:p.Glu430Asp
ENST00000421587.6:c.2427G>T	ENSP00000400526.2:p.Glu809Asp
ENST00000442742.6:c.2430G>T	ENSP00000398007.2:p.Glu810Asp
NM_001126054.2:c.2430G>T	NP_001119526.1:p.Glu810Asp
NM_001126055.2:c.2427G>T	NP_001119527.1:p.Glu809Asp
NM_003688.3:c.2499G>T	NP_003679.2:p.Glu833Asp
XM_005272686.3:c.2496G>T	XP_005272743.1:p.Glu832Asp
XM_006724566.2:c.2391G>T	XP_006724629.1:p.Glu797Asp
XM_011543993.1:c.2514G>T	XP_011542295.1:p.Glu838Asp
XM_011543994.1:c.2478G>T	XP_011542296.1:p.Glu826Asp
XM_011543995.1:c.2445G>T	XP_011542297.1:p.Glu815Asp
XM_011543996.1:c.2409G>T	XP_011542298.1:p.Glu803Asp
XM_011543997.1:c.1941G>T	XP_011542299.1:p.Glu647Asp
XM_005272686.4:c.2496G>T	XP_005272743.1:p.Glu832Asp
XM_006724566.3:c.2391G>T	XP_006724629.1:p.Glu797Asp
XM_011543993.2:c.2514G>T	XP_011542295.1:p.Glu838Asp
XM_011543994.2:c.2478G>T	XP_011542296.1:p.Glu826Asp
XM_011543995.2:c.2445G>T	XP_011542297.1:p.Glu815Asp
XM_011543996.2:c.2409G>T	XP_011542298.1:p.Glu803Asp
XM_011543997.3:c.1941G>T	XP_011542299.1:p.Glu647Asp
XM_024452473.1:c.1836G>T	XP_024308241.1:p.Glu612Asp
NM_001367721.1:c.2514G>T MANE Select	NP_001354650.1:p.Glu838Asp