Canonical Allele Identifier: CA516099047

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390266C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531013C>T , CM000685.2:g.41531013C>T	GRCh38
NC_000023.10:g.41390266C>T , CM000685.1:g.41390266C>T	GRCh37
NC_000023.9:g.41275210C>T	NCBI36
NG_016754.1:g.397022G>A
NG_016754.2:g.397022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2463G>A	ENSP00000367396.2:p.Glu821=
ENST00000378158.6:c.2460G>A	ENSP00000367400.2:p.Glu820=
ENST00000378163.7:c.2514G>A MANE Select	ENSP00000367405.1:p.Glu838=
ENST00000378166.9:c.2412G>A	ENSP00000367408.5:p.Glu804=
ENST00000378168.8:c.2517G>A	ENSP00000367410.4:p.Glu839=
ENST00000378179.9:c.1134G>A	ENSP00000367421.4:p.Glu378=
ENST00000421587.8:c.2445G>A	ENSP00000400526.4:p.Glu815=
ENST00000442742.7:c.2376G>A	ENSP00000398007.3:p.Glu792=
ENST00000642499.1:n.1293G>A
ENST00000643733.1:c.286G>A
ENST00000644219.1:c.2496G>A	ENSP00000495357.1:p.Glu832=
ENST00000644347.1:c.2427G>A	ENSP00000494183.1:p.Glu809=
ENST00000645566.1:c.2499G>A	ENSP00000494788.1:p.Glu833=
ENST00000645937.2:n.2745G>A
ENST00000645986.2:c.2481G>A	ENSP00000494409.2:p.Glu827=
ENST00000646087.2:c.1836G>A	ENSP00000495510.2:p.Glu612=
ENST00000646120.2:c.2430G>A	ENSP00000495291.2:p.Glu810=
ENST00000675354.1:c.2448G>A	ENSP00000502315.1:p.Glu816=
ENST00000378158.5:c.2463G>A	ENSP00000367400.1:p.Glu821=
ENST00000378163.5:c.2514G>A	ENSP00000367405.1:p.Glu838=
ENST00000378166.8:c.2499G>A	ENSP00000367408.4:p.Glu833=
ENST00000378168.6:c.879G>A	ENSP00000367410.2:p.Glu293=
ENST00000378179.7:c.1290G>A	ENSP00000367421.3:p.Glu430=
ENST00000421587.6:c.2427G>A	ENSP00000400526.2:p.Glu809=
ENST00000442742.6:c.2430G>A	ENSP00000398007.2:p.Glu810=
NM_001126054.2:c.2430G>A	NP_001119526.1:p.Glu810=
NM_001126055.2:c.2427G>A	NP_001119527.1:p.Glu809=
NM_003688.3:c.2499G>A	NP_003679.2:p.Glu833=
XM_005272686.3:c.2496G>A	XP_005272743.1:p.Glu832=
XM_006724566.2:c.2391G>A	XP_006724629.1:p.Glu797=
XM_011543993.1:c.2514G>A	XP_011542295.1:p.Glu838=
XM_011543994.1:c.2478G>A	XP_011542296.1:p.Glu826=
XM_011543995.1:c.2445G>A	XP_011542297.1:p.Glu815=
XM_011543996.1:c.2409G>A	XP_011542298.1:p.Glu803=
XM_011543997.1:c.1941G>A	XP_011542299.1:p.Glu647=
XM_005272686.4:c.2496G>A	XP_005272743.1:p.Glu832=
XM_006724566.3:c.2391G>A	XP_006724629.1:p.Glu797=
XM_011543993.2:c.2514G>A	XP_011542295.1:p.Glu838=
XM_011543994.2:c.2478G>A	XP_011542296.1:p.Glu826=
XM_011543995.2:c.2445G>A	XP_011542297.1:p.Glu815=
XM_011543996.2:c.2409G>A	XP_011542298.1:p.Glu803=
XM_011543997.3:c.1941G>A	XP_011542299.1:p.Glu647=
XM_024452473.1:c.1836G>A	XP_024308241.1:p.Glu612=
NM_001367721.1:c.2514G>A MANE Select	NP_001354650.1:p.Glu838=