Canonical Allele Identifier: CA516099065

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390290C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531037C>A , CM000685.2:g.41531037C>A	GRCh38
NC_000023.10:g.41390290C>A , CM000685.1:g.41390290C>A	GRCh37
NC_000023.9:g.41275234C>A	NCBI36
NG_016754.1:g.396998G>T
NG_016754.2:g.396998G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2439G>T	ENSP00000367396.2:p.Gly813=
ENST00000378158.6:c.2436G>T	ENSP00000367400.2:p.Gly812=
ENST00000378163.7:c.2490G>T MANE Select	ENSP00000367405.1:p.Gly830=
ENST00000378166.9:c.2388G>T	ENSP00000367408.5:p.Gly796=
ENST00000378168.8:c.2493G>T	ENSP00000367410.4:p.Gly831=
ENST00000378179.9:c.1110G>T	ENSP00000367421.4:p.Gly370=
ENST00000421587.8:c.2421G>T	ENSP00000400526.4:p.Gly807=
ENST00000442742.7:c.2352G>T	ENSP00000398007.3:p.Gly784=
ENST00000642499.1:n.1269G>T
ENST00000643733.1:c.262G>T
ENST00000644219.1:c.2472G>T	ENSP00000495357.1:p.Gly824=
ENST00000644347.1:c.2403G>T	ENSP00000494183.1:p.Gly801=
ENST00000645566.1:c.2475G>T	ENSP00000494788.1:p.Gly825=
ENST00000645937.2:n.2721G>T
ENST00000645986.2:c.2457G>T	ENSP00000494409.2:p.Gly819=
ENST00000646087.2:c.1812G>T	ENSP00000495510.2:p.Gly604=
ENST00000646120.2:c.2406G>T	ENSP00000495291.2:p.Gly802=
ENST00000675354.1:c.2424G>T	ENSP00000502315.1:p.Gly808=
ENST00000378158.5:c.2439G>T	ENSP00000367400.1:p.Gly813=
ENST00000378163.5:c.2490G>T	ENSP00000367405.1:p.Gly830=
ENST00000378166.8:c.2475G>T	ENSP00000367408.4:p.Gly825=
ENST00000378168.6:c.855G>T	ENSP00000367410.2:p.Gly285=
ENST00000378179.7:c.1266G>T	ENSP00000367421.3:p.Gly422=
ENST00000421587.6:c.2403G>T	ENSP00000400526.2:p.Gly801=
ENST00000442742.6:c.2406G>T	ENSP00000398007.2:p.Gly802=
NM_001126054.2:c.2406G>T	NP_001119526.1:p.Gly802=
NM_001126055.2:c.2403G>T	NP_001119527.1:p.Gly801=
NM_003688.3:c.2475G>T	NP_003679.2:p.Gly825=
XM_005272686.3:c.2472G>T	XP_005272743.1:p.Gly824=
XM_006724566.2:c.2367G>T	XP_006724629.1:p.Gly789=
XM_011543993.1:c.2490G>T	XP_011542295.1:p.Gly830=
XM_011543994.1:c.2454G>T	XP_011542296.1:p.Gly818=
XM_011543995.1:c.2421G>T	XP_011542297.1:p.Gly807=
XM_011543996.1:c.2385G>T	XP_011542298.1:p.Gly795=
XM_011543997.1:c.1917G>T	XP_011542299.1:p.Gly639=
XM_005272686.4:c.2472G>T	XP_005272743.1:p.Gly824=
XM_006724566.3:c.2367G>T	XP_006724629.1:p.Gly789=
XM_011543993.2:c.2490G>T	XP_011542295.1:p.Gly830=
XM_011543994.2:c.2454G>T	XP_011542296.1:p.Gly818=
XM_011543995.2:c.2421G>T	XP_011542297.1:p.Gly807=
XM_011543996.2:c.2385G>T	XP_011542298.1:p.Gly795=
XM_011543997.3:c.1917G>T	XP_011542299.1:p.Gly639=
XM_024452473.1:c.1812G>T	XP_024308241.1:p.Gly604=
NM_001367721.1:c.2490G>T MANE Select	NP_001354650.1:p.Gly830=