Canonical Allele Identifier: CA412990246

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390352T>A (hg19) ; chrX:g.41531099T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531099T>A , CM000685.2:g.41531099T>A	GRCh38
NC_000023.10:g.41390352T>A , CM000685.1:g.41390352T>A	GRCh37
NC_000023.9:g.41275296T>A	NCBI36
NG_016754.1:g.396936A>T
NG_016754.2:g.396936A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2377A>T	ENSP00000367396.2:p.Ser793Cys
ENST00000378158.6:c.2374A>T	ENSP00000367400.2:p.Ser792Cys
ENST00000378163.7:c.2428A>T MANE Select	ENSP00000367405.1:p.Ser810Cys
ENST00000378166.9:c.2326A>T	ENSP00000367408.5:p.Ser776Cys
ENST00000378168.8:c.2431A>T	ENSP00000367410.4:p.Ser811Cys
ENST00000378179.9:c.1048A>T	ENSP00000367421.4:p.Ser350Cys
ENST00000421587.8:c.2359A>T	ENSP00000400526.4:p.Ser787Cys
ENST00000442742.7:c.2290A>T	ENSP00000398007.3:p.Ser764Cys
ENST00000642499.1:n.1207A>T
ENST00000643733.1:c.200A>T
ENST00000644219.1:c.2410A>T	ENSP00000495357.1:p.Ser804Cys
ENST00000644347.1:c.2341A>T	ENSP00000494183.1:p.Ser781Cys
ENST00000645566.1:c.2413A>T	ENSP00000494788.1:p.Ser805Cys
ENST00000645937.2:n.2659A>T
ENST00000645986.2:c.2395A>T	ENSP00000494409.2:p.Ser799Cys
ENST00000646087.2:c.1750A>T	ENSP00000495510.2:p.Ser584Cys
ENST00000646120.2:c.2344A>T	ENSP00000495291.2:p.Ser782Cys
ENST00000675354.1:c.2362A>T	ENSP00000502315.1:p.Ser788Cys
ENST00000378158.5:c.2377A>T	ENSP00000367400.1:p.Ser793Cys
ENST00000378163.5:c.2428A>T	ENSP00000367405.1:p.Ser810Cys
ENST00000378166.8:c.2413A>T	ENSP00000367408.4:p.Ser805Cys
ENST00000378168.6:c.793A>T	ENSP00000367410.2:p.Ser265Cys
ENST00000378179.7:c.1204A>T	ENSP00000367421.3:p.Ser402Cys
ENST00000421587.6:c.2341A>T	ENSP00000400526.2:p.Ser781Cys
ENST00000442742.6:c.2344A>T	ENSP00000398007.2:p.Ser782Cys
NM_001126054.2:c.2344A>T	NP_001119526.1:p.Ser782Cys
NM_001126055.2:c.2341A>T	NP_001119527.1:p.Ser781Cys
NM_003688.3:c.2413A>T	NP_003679.2:p.Ser805Cys
XM_005272686.3:c.2410A>T	XP_005272743.1:p.Ser804Cys
XM_006724566.2:c.2305A>T	XP_006724629.1:p.Ser769Cys
XM_011543993.1:c.2428A>T	XP_011542295.1:p.Ser810Cys
XM_011543994.1:c.2392A>T	XP_011542296.1:p.Ser798Cys
XM_011543995.1:c.2359A>T	XP_011542297.1:p.Ser787Cys
XM_011543996.1:c.2323A>T	XP_011542298.1:p.Ser775Cys
XM_011543997.1:c.1855A>T	XP_011542299.1:p.Ser619Cys
XM_005272686.4:c.2410A>T	XP_005272743.1:p.Ser804Cys
XM_006724566.3:c.2305A>T	XP_006724629.1:p.Ser769Cys
XM_011543993.2:c.2428A>T	XP_011542295.1:p.Ser810Cys
XM_011543994.2:c.2392A>T	XP_011542296.1:p.Ser798Cys
XM_011543995.2:c.2359A>T	XP_011542297.1:p.Ser787Cys
XM_011543996.2:c.2323A>T	XP_011542298.1:p.Ser775Cys
XM_011543997.3:c.1855A>T	XP_011542299.1:p.Ser619Cys
XM_024452473.1:c.1750A>T	XP_024308241.1:p.Ser584Cys
NM_001367721.1:c.2428A>T MANE Select	NP_001354650.1:p.Ser810Cys