Canonical Allele Identifier: CA516099046

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390263A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531010A>T , CM000685.2:g.41531010A>T	GRCh38
NC_000023.10:g.41390263A>T , CM000685.1:g.41390263A>T	GRCh37
NC_000023.9:g.41275207A>T	NCBI36
NG_016754.1:g.397025T>A
NG_016754.2:g.397025T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2466T>A	ENSP00000367396.2:p.Pro822=
ENST00000378158.6:c.2463T>A	ENSP00000367400.2:p.Pro821=
ENST00000378163.7:c.2517T>A MANE Select	ENSP00000367405.1:p.Pro839=
ENST00000378166.9:c.2415T>A	ENSP00000367408.5:p.Pro805=
ENST00000378168.8:c.2520T>A	ENSP00000367410.4:p.Pro840=
ENST00000378179.9:c.1137T>A	ENSP00000367421.4:p.Pro379=
ENST00000421587.8:c.2448T>A	ENSP00000400526.4:p.Pro816=
ENST00000442742.7:c.2379T>A	ENSP00000398007.3:p.Pro793=
ENST00000642499.1:n.1296T>A
ENST00000643733.1:c.289T>A
ENST00000644219.1:c.2499T>A	ENSP00000495357.1:p.Pro833=
ENST00000644347.1:c.2430T>A	ENSP00000494183.1:p.Pro810=
ENST00000645566.1:c.2502T>A	ENSP00000494788.1:p.Pro834=
ENST00000645937.2:n.2748T>A
ENST00000645986.2:c.2484T>A	ENSP00000494409.2:p.Pro828=
ENST00000646087.2:c.1839T>A	ENSP00000495510.2:p.Pro613=
ENST00000646120.2:c.2433T>A	ENSP00000495291.2:p.Pro811=
ENST00000675354.1:c.2451T>A	ENSP00000502315.1:p.Pro817=
ENST00000378158.5:c.2466T>A	ENSP00000367400.1:p.Pro822=
ENST00000378163.5:c.2517T>A	ENSP00000367405.1:p.Pro839=
ENST00000378166.8:c.2502T>A	ENSP00000367408.4:p.Pro834=
ENST00000378168.6:c.882T>A	ENSP00000367410.2:p.Pro294=
ENST00000378179.7:c.1293T>A	ENSP00000367421.3:p.Pro431=
ENST00000421587.6:c.2430T>A	ENSP00000400526.2:p.Pro810=
ENST00000442742.6:c.2433T>A	ENSP00000398007.2:p.Pro811=
NM_001126054.2:c.2433T>A	NP_001119526.1:p.Pro811=
NM_001126055.2:c.2430T>A	NP_001119527.1:p.Pro810=
NM_003688.3:c.2502T>A	NP_003679.2:p.Pro834=
XM_005272686.3:c.2499T>A	XP_005272743.1:p.Pro833=
XM_006724566.2:c.2394T>A	XP_006724629.1:p.Pro798=
XM_011543993.1:c.2517T>A	XP_011542295.1:p.Pro839=
XM_011543994.1:c.2481T>A	XP_011542296.1:p.Pro827=
XM_011543995.1:c.2448T>A	XP_011542297.1:p.Pro816=
XM_011543996.1:c.2412T>A	XP_011542298.1:p.Pro804=
XM_011543997.1:c.1944T>A	XP_011542299.1:p.Pro648=
XM_005272686.4:c.2499T>A	XP_005272743.1:p.Pro833=
XM_006724566.3:c.2394T>A	XP_006724629.1:p.Pro798=
XM_011543993.2:c.2517T>A	XP_011542295.1:p.Pro839=
XM_011543994.2:c.2481T>A	XP_011542296.1:p.Pro827=
XM_011543995.2:c.2448T>A	XP_011542297.1:p.Pro816=
XM_011543996.2:c.2412T>A	XP_011542298.1:p.Pro804=
XM_011543997.3:c.1944T>A	XP_011542299.1:p.Pro648=
XM_024452473.1:c.1839T>A	XP_024308241.1:p.Pro613=
NM_001367721.1:c.2517T>A MANE Select	NP_001354650.1:p.Pro839=