Canonical Allele Identifier: CA412988713

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379708C>A (hg19) ; chrX:g.41520455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520455C>A , CM000685.2:g.41520455C>A	GRCh38
NC_000023.10:g.41379708C>A , CM000685.1:g.41379708C>A	GRCh37
NC_000023.9:g.41264652C>A	NCBI36
NG_016754.1:g.407580G>T
NG_016754.2:g.407580G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2695G>T	ENSP00000367396.2:p.Ala899Ser
ENST00000378158.6:c.2692G>T	ENSP00000367400.2:p.Ala898Ser
ENST00000378163.7:c.2746G>T MANE Select	ENSP00000367405.1:p.Ala916Ser
ENST00000378166.9:c.2644G>T	ENSP00000367408.5:p.Ala882Ser
ENST00000378168.8:c.2749G>T	ENSP00000367410.4:p.Ala917Ser
ENST00000378179.9:c.1366G>T	ENSP00000367421.4:p.Ala456Ser
ENST00000421587.8:c.2677G>T	ENSP00000400526.4:p.Ala893Ser
ENST00000442742.7:c.2608G>T	ENSP00000398007.3:p.Ala870Ser
ENST00000642499.1:n.1525G>T
ENST00000642641.1:n.905G>T
ENST00000643733.1:c.545G>T
ENST00000644219.1:c.2728G>T	ENSP00000495357.1:p.Ala910Ser
ENST00000644347.1:c.2659G>T	ENSP00000494183.1:p.Ala887Ser
ENST00000645566.1:c.2731G>T	ENSP00000494788.1:p.Ala911Ser
ENST00000645937.2:n.2977G>T
ENST00000645986.2:c.2833G>T	ENSP00000494409.2:p.Ala945Ser
ENST00000646087.2:c.2068G>T	ENSP00000495510.2:p.Ala690Ser
ENST00000646120.2:c.2662G>T	ENSP00000495291.2:p.Ala888Ser
ENST00000675354.1:c.2680G>T	ENSP00000502315.1:p.Ala894Ser
ENST00000378158.5:c.2695G>T	ENSP00000367400.1:p.Ala899Ser
ENST00000378163.5:c.2746G>T	ENSP00000367405.1:p.Ala916Ser
ENST00000378166.8:c.2731G>T	ENSP00000367408.4:p.Ala911Ser
ENST00000378168.6:c.1111G>T	ENSP00000367410.2:p.Ala371Ser
ENST00000378179.7:c.1522G>T	ENSP00000367421.3:p.Ala508Ser
ENST00000421587.6:c.2659G>T	ENSP00000400526.2:p.Ala887Ser
ENST00000442742.6:c.2662G>T	ENSP00000398007.2:p.Ala888Ser
NM_001126054.2:c.2662G>T	NP_001119526.1:p.Ala888Ser
NM_001126055.2:c.2659G>T	NP_001119527.1:p.Ala887Ser
NM_003688.3:c.2731G>T	NP_003679.2:p.Ala911Ser
XM_005272686.3:c.2728G>T	XP_005272743.1:p.Ala910Ser
XM_006724566.2:c.2623G>T	XP_006724629.1:p.Ala875Ser
XM_011543993.1:c.2746G>T	XP_011542295.1:p.Ala916Ser
XM_011543994.1:c.2710G>T	XP_011542296.1:p.Ala904Ser
XM_011543995.1:c.2677G>T	XP_011542297.1:p.Ala893Ser
XM_011543996.1:c.2641G>T	XP_011542298.1:p.Ala881Ser
XM_011543997.1:c.2173G>T	XP_011542299.1:p.Ala725Ser
XM_005272686.4:c.2728G>T	XP_005272743.1:p.Ala910Ser
XM_006724566.3:c.2623G>T	XP_006724629.1:p.Ala875Ser
XM_011543993.2:c.2746G>T	XP_011542295.1:p.Ala916Ser
XM_011543994.2:c.2710G>T	XP_011542296.1:p.Ala904Ser
XM_011543995.2:c.2677G>T	XP_011542297.1:p.Ala893Ser
XM_011543996.2:c.2641G>T	XP_011542298.1:p.Ala881Ser
XM_011543997.3:c.2173G>T	XP_011542299.1:p.Ala725Ser
XM_024452473.1:c.2068G>T	XP_024308241.1:p.Ala690Ser
NM_001367721.1:c.2746G>T MANE Select	NP_001354650.1:p.Ala916Ser