Canonical Allele Identifier: CA516099113

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390326T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531073T>G , CM000685.2:g.41531073T>G	GRCh38
NC_000023.10:g.41390326T>G , CM000685.1:g.41390326T>G	GRCh37
NC_000023.9:g.41275270T>G	NCBI36
NG_016754.1:g.396962A>C
NG_016754.2:g.396962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2403A>C	ENSP00000367396.2:p.Thr801=
ENST00000378158.6:c.2400A>C	ENSP00000367400.2:p.Thr800=
ENST00000378163.7:c.2454A>C MANE Select	ENSP00000367405.1:p.Thr818=
ENST00000378166.9:c.2352A>C	ENSP00000367408.5:p.Thr784=
ENST00000378168.8:c.2457A>C	ENSP00000367410.4:p.Thr819=
ENST00000378179.9:c.1074A>C	ENSP00000367421.4:p.Thr358=
ENST00000421587.8:c.2385A>C	ENSP00000400526.4:p.Thr795=
ENST00000442742.7:c.2316A>C	ENSP00000398007.3:p.Thr772=
ENST00000642499.1:n.1233A>C
ENST00000643733.1:c.226A>C
ENST00000644219.1:c.2436A>C	ENSP00000495357.1:p.Thr812=
ENST00000644347.1:c.2367A>C	ENSP00000494183.1:p.Thr789=
ENST00000645566.1:c.2439A>C	ENSP00000494788.1:p.Thr813=
ENST00000645937.2:n.2685A>C
ENST00000645986.2:c.2421A>C	ENSP00000494409.2:p.Thr807=
ENST00000646087.2:c.1776A>C	ENSP00000495510.2:p.Thr592=
ENST00000646120.2:c.2370A>C	ENSP00000495291.2:p.Thr790=
ENST00000675354.1:c.2388A>C	ENSP00000502315.1:p.Thr796=
ENST00000378158.5:c.2403A>C	ENSP00000367400.1:p.Thr801=
ENST00000378163.5:c.2454A>C	ENSP00000367405.1:p.Thr818=
ENST00000378166.8:c.2439A>C	ENSP00000367408.4:p.Thr813=
ENST00000378168.6:c.819A>C	ENSP00000367410.2:p.Thr273=
ENST00000378179.7:c.1230A>C	ENSP00000367421.3:p.Thr410=
ENST00000421587.6:c.2367A>C	ENSP00000400526.2:p.Thr789=
ENST00000442742.6:c.2370A>C	ENSP00000398007.2:p.Thr790=
NM_001126054.2:c.2370A>C	NP_001119526.1:p.Thr790=
NM_001126055.2:c.2367A>C	NP_001119527.1:p.Thr789=
NM_003688.3:c.2439A>C	NP_003679.2:p.Thr813=
XM_005272686.3:c.2436A>C	XP_005272743.1:p.Thr812=
XM_006724566.2:c.2331A>C	XP_006724629.1:p.Thr777=
XM_011543993.1:c.2454A>C	XP_011542295.1:p.Thr818=
XM_011543994.1:c.2418A>C	XP_011542296.1:p.Thr806=
XM_011543995.1:c.2385A>C	XP_011542297.1:p.Thr795=
XM_011543996.1:c.2349A>C	XP_011542298.1:p.Thr783=
XM_011543997.1:c.1881A>C	XP_011542299.1:p.Thr627=
XM_005272686.4:c.2436A>C	XP_005272743.1:p.Thr812=
XM_006724566.3:c.2331A>C	XP_006724629.1:p.Thr777=
XM_011543993.2:c.2454A>C	XP_011542295.1:p.Thr818=
XM_011543994.2:c.2418A>C	XP_011542296.1:p.Thr806=
XM_011543995.2:c.2385A>C	XP_011542297.1:p.Thr795=
XM_011543996.2:c.2349A>C	XP_011542298.1:p.Thr783=
XM_011543997.3:c.1881A>C	XP_011542299.1:p.Thr627=
XM_024452473.1:c.1776A>C	XP_024308241.1:p.Thr592=
NM_001367721.1:c.2454A>C MANE Select	NP_001354650.1:p.Thr818=