Canonical Allele Identifier: CA10390015

Gene: CASK

Linked Data

• ClinVar Variation Id: 1204593
• ClinVar RCV Id: RCV001570990 ; RCV001866026
• dbSNP Id: rs774433205
• ExAC: X:41390291 C / T
• gnomAD v2: X-41390291-C-T
• gnomAD v3: X-41531038-C-T
• gnomAD v4: X-41531038-C-T
• MyVariant Identifiers: chrX:g.41390291C>T (hg19) ; chrX:g.41531038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531038C>T , CM000685.2:g.41531038C>T	GRCh38
NC_000023.10:g.41390291C>T , CM000685.1:g.41390291C>T	GRCh37
NC_000023.9:g.41275235C>T	NCBI36
NG_016754.1:g.396997G>A
NG_016754.2:g.396997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2438G>A	ENSP00000367396.2:p.Gly813Glu
ENST00000378158.6:c.2435G>A	ENSP00000367400.2:p.Gly812Glu
ENST00000378163.7:c.2489G>A MANE Select	ENSP00000367405.1:p.Gly830Glu
ENST00000378166.9:c.2387G>A	ENSP00000367408.5:p.Gly796Glu
ENST00000378168.8:c.2492G>A	ENSP00000367410.4:p.Gly831Glu
ENST00000378179.9:c.1109G>A	ENSP00000367421.4:p.Gly370Glu
ENST00000421587.8:c.2420G>A	ENSP00000400526.4:p.Gly807Glu
ENST00000442742.7:c.2351G>A	ENSP00000398007.3:p.Gly784Glu
ENST00000642499.1:n.1268G>A
ENST00000643733.1:c.261G>A
ENST00000644219.1:c.2471G>A	ENSP00000495357.1:p.Gly824Glu
ENST00000644347.1:c.2402G>A	ENSP00000494183.1:p.Gly801Glu
ENST00000645566.1:c.2474G>A	ENSP00000494788.1:p.Gly825Glu
ENST00000645937.2:n.2720G>A
ENST00000645986.2:c.2456G>A	ENSP00000494409.2:p.Gly819Glu
ENST00000646087.2:c.1811G>A	ENSP00000495510.2:p.Gly604Glu
ENST00000646120.2:c.2405G>A	ENSP00000495291.2:p.Gly802Glu
ENST00000675354.1:c.2423G>A	ENSP00000502315.1:p.Gly808Glu
ENST00000378158.5:c.2438G>A	ENSP00000367400.1:p.Gly813Glu
ENST00000378163.5:c.2489G>A	ENSP00000367405.1:p.Gly830Glu
ENST00000378166.8:c.2474G>A	ENSP00000367408.4:p.Gly825Glu
ENST00000378168.6:c.854G>A	ENSP00000367410.2:p.Gly285Glu
ENST00000378179.7:c.1265G>A	ENSP00000367421.3:p.Gly422Glu
ENST00000421587.6:c.2402G>A	ENSP00000400526.2:p.Gly801Glu
ENST00000442742.6:c.2405G>A	ENSP00000398007.2:p.Gly802Glu
NM_001126054.2:c.2405G>A	NP_001119526.1:p.Gly802Glu
NM_001126055.2:c.2402G>A	NP_001119527.1:p.Gly801Glu
NM_003688.3:c.2474G>A	NP_003679.2:p.Gly825Glu
XM_005272686.3:c.2471G>A	XP_005272743.1:p.Gly824Glu
XM_006724566.2:c.2366G>A	XP_006724629.1:p.Gly789Glu
XM_011543993.1:c.2489G>A	XP_011542295.1:p.Gly830Glu
XM_011543994.1:c.2453G>A	XP_011542296.1:p.Gly818Glu
XM_011543995.1:c.2420G>A	XP_011542297.1:p.Gly807Glu
XM_011543996.1:c.2384G>A	XP_011542298.1:p.Gly795Glu
XM_011543997.1:c.1916G>A	XP_011542299.1:p.Gly639Glu
XM_005272686.4:c.2471G>A	XP_005272743.1:p.Gly824Glu
XM_006724566.3:c.2366G>A	XP_006724629.1:p.Gly789Glu
XM_011543993.2:c.2489G>A	XP_011542295.1:p.Gly830Glu
XM_011543994.2:c.2453G>A	XP_011542296.1:p.Gly818Glu
XM_011543995.2:c.2420G>A	XP_011542297.1:p.Gly807Glu
XM_011543996.2:c.2384G>A	XP_011542298.1:p.Gly795Glu
XM_011543997.3:c.1916G>A	XP_011542299.1:p.Gly639Glu
XM_024452473.1:c.1811G>A	XP_024308241.1:p.Gly604Glu
NM_001367721.1:c.2489G>A MANE Select	NP_001354650.1:p.Gly830Glu