Canonical Allele Identifier: CA251215

Gene: CASK

Linked Data

• ClinVar Variation Id: 180215
• ClinVar RCV Id: RCV000157068
• dbSNP Id: rs727505397
• MyVariant Identifiers: chrX:g.41413035C>T (hg19) ; chrX:g.41553782C>T (hg38)
• PubMed: PMID:19165920 ; PMID:23165780

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41553782C>T , CM000685.2:g.41553782C>T	GRCh38
NC_000023.10:g.41413035C>T , CM000685.1:g.41413035C>T	GRCh37
NC_000023.9:g.41297979C>T	NCBI36
NG_016754.1:g.374253G>A
NG_016754.2:g.374253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.1940G>A	ENSP00000367396.2:p.Gly647Asp
ENST00000378158.6:c.1922G>A	ENSP00000367400.2:p.Gly641Asp
ENST00000378163.7:c.1976G>A MANE Select	ENSP00000367405.1:p.Gly659Asp
ENST00000378166.9:c.1889G>A	ENSP00000367408.5:p.Gly630Asp
ENST00000378168.8:c.1994G>A	ENSP00000367410.4:p.Gly665Asp
ENST00000378179.9:c.596G>A	ENSP00000367421.4:p.Gly199Asp
ENST00000421587.8:c.1907G>A	ENSP00000400526.4:p.Gly636Asp
ENST00000442742.7:c.1853G>A	ENSP00000398007.3:p.Gly618Asp
ENST00000472704.3:n.518G>A
ENST00000642499.1:n.770G>A
ENST00000644219.1:c.1958G>A	ENSP00000495357.1:p.Gly653Asp
ENST00000644347.1:c.1889G>A	ENSP00000494183.1:p.Gly630Asp
ENST00000645566.1:c.1976G>A	ENSP00000494788.1:p.Gly659Asp
ENST00000645937.2:n.2207G>A
ENST00000645986.2:c.1958G>A	ENSP00000494409.2:p.Gly653Asp
ENST00000646087.2:c.1298G>A	ENSP00000495510.2:p.Gly433Asp
ENST00000646120.2:c.1907G>A	ENSP00000495291.2:p.Gly636Asp
ENST00000675354.1:c.1925G>A	ENSP00000502315.1:p.Gly642Asp
ENST00000378158.5:c.1940G>A	ENSP00000367400.1:p.Gly647Asp
ENST00000378163.5:c.1976G>A	ENSP00000367405.1:p.Gly659Asp
ENST00000378166.8:c.1976G>A	ENSP00000367408.4:p.Gly659Asp
ENST00000378168.6:c.341G>A	ENSP00000367410.2:p.Gly114Asp
ENST00000378179.7:c.752G>A	ENSP00000367421.3:p.Gly251Asp
ENST00000421587.6:c.1889G>A	ENSP00000400526.2:p.Gly630Asp
ENST00000442742.6:c.1907G>A	ENSP00000398007.2:p.Gly636Asp
ENST00000472704.1:n.518G>A
NM_001126054.2:c.1907G>A	NP_001119526.1:p.Gly636Asp
NM_001126055.2:c.1889G>A	NP_001119527.1:p.Gly630Asp
NM_003688.3:c.1976G>A	NP_003679.2:p.Gly659Asp
XM_005272686.3:c.1958G>A	XP_005272743.1:p.Gly653Asp
XM_006724566.2:c.1853G>A	XP_006724629.1:p.Gly618Asp
XM_011543993.1:c.1976G>A	XP_011542295.1:p.Gly659Asp
XM_011543994.1:c.1940G>A	XP_011542296.1:p.Gly647Asp
XM_011543995.1:c.1907G>A	XP_011542297.1:p.Gly636Asp
XM_011543996.1:c.1871G>A	XP_011542298.1:p.Gly624Asp
XM_011543997.1:c.1403G>A	XP_011542299.1:p.Gly468Asp
XM_005272686.4:c.1958G>A	XP_005272743.1:p.Gly653Asp
XM_006724566.3:c.1853G>A	XP_006724629.1:p.Gly618Asp
XM_011543993.2:c.1976G>A	XP_011542295.1:p.Gly659Asp
XM_011543994.2:c.1940G>A	XP_011542296.1:p.Gly647Asp
XM_011543995.2:c.1907G>A	XP_011542297.1:p.Gly636Asp
XM_011543996.2:c.1871G>A	XP_011542298.1:p.Gly624Asp
XM_011543997.3:c.1403G>A	XP_011542299.1:p.Gly468Asp
XM_024452473.1:c.1298G>A	XP_024308241.1:p.Gly433Asp
NM_001367721.1:c.1976G>A MANE Select	NP_001354650.1:p.Gly659Asp