Canonical Allele Identifier: CA412988698

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379700C>G (hg19) ; chrX:g.41520447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520447C>G , CM000685.2:g.41520447C>G	GRCh38
NC_000023.10:g.41379700C>G , CM000685.1:g.41379700C>G	GRCh37
NC_000023.9:g.41264644C>G	NCBI36
NG_016754.1:g.407588G>C
NG_016754.2:g.407588G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2703G>C	ENSP00000367396.2:p.Gln901His
ENST00000378158.6:c.2700G>C	ENSP00000367400.2:p.Gln900His
ENST00000378163.7:c.2754G>C MANE Select	ENSP00000367405.1:p.Gln918His
ENST00000378166.9:c.2652G>C	ENSP00000367408.5:p.Gln884His
ENST00000378168.8:c.2757G>C	ENSP00000367410.4:p.Gln919His
ENST00000378179.9:c.1374G>C	ENSP00000367421.4:p.Gln458His
ENST00000421587.8:c.2685G>C	ENSP00000400526.4:p.Gln895His
ENST00000442742.7:c.2616G>C	ENSP00000398007.3:p.Gln872His
ENST00000642499.1:n.1533G>C
ENST00000642641.1:n.913G>C
ENST00000643733.1:c.553G>C
ENST00000644219.1:c.2736G>C	ENSP00000495357.1:p.Gln912His
ENST00000644347.1:c.2667G>C	ENSP00000494183.1:p.Gln889His
ENST00000645566.1:c.2739G>C	ENSP00000494788.1:p.Gln913His
ENST00000645937.2:n.2985G>C
ENST00000645986.2:c.2841G>C	ENSP00000494409.2:p.Gln947His
ENST00000646087.2:c.2076G>C	ENSP00000495510.2:p.Gln692His
ENST00000646120.2:c.2670G>C	ENSP00000495291.2:p.Gln890His
ENST00000675354.1:c.2688G>C	ENSP00000502315.1:p.Gln896His
ENST00000378158.5:c.2703G>C	ENSP00000367400.1:p.Gln901His
ENST00000378163.5:c.2754G>C	ENSP00000367405.1:p.Gln918His
ENST00000378166.8:c.2739G>C	ENSP00000367408.4:p.Gln913His
ENST00000378168.6:c.1119G>C	ENSP00000367410.2:p.Gln373His
ENST00000378179.7:c.1530G>C	ENSP00000367421.3:p.Gln510His
ENST00000421587.6:c.2667G>C	ENSP00000400526.2:p.Gln889His
ENST00000442742.6:c.2670G>C	ENSP00000398007.2:p.Gln890His
NM_001126054.2:c.2670G>C	NP_001119526.1:p.Gln890His
NM_001126055.2:c.2667G>C	NP_001119527.1:p.Gln889His
NM_003688.3:c.2739G>C	NP_003679.2:p.Gln913His
XM_005272686.3:c.2736G>C	XP_005272743.1:p.Gln912His
XM_006724566.2:c.2631G>C	XP_006724629.1:p.Gln877His
XM_011543993.1:c.2754G>C	XP_011542295.1:p.Gln918His
XM_011543994.1:c.2718G>C	XP_011542296.1:p.Gln906His
XM_011543995.1:c.2685G>C	XP_011542297.1:p.Gln895His
XM_011543996.1:c.2649G>C	XP_011542298.1:p.Gln883His
XM_011543997.1:c.2181G>C	XP_011542299.1:p.Gln727His
XM_005272686.4:c.2736G>C	XP_005272743.1:p.Gln912His
XM_006724566.3:c.2631G>C	XP_006724629.1:p.Gln877His
XM_011543993.2:c.2754G>C	XP_011542295.1:p.Gln918His
XM_011543994.2:c.2718G>C	XP_011542296.1:p.Gln906His
XM_011543995.2:c.2685G>C	XP_011542297.1:p.Gln895His
XM_011543996.2:c.2649G>C	XP_011542298.1:p.Gln883His
XM_011543997.3:c.2181G>C	XP_011542299.1:p.Gln727His
XM_024452473.1:c.2076G>C	XP_024308241.1:p.Gln692His
NM_001367721.1:c.2754G>C MANE Select	NP_001354650.1:p.Gln918His