Canonical Allele Identifier: CA412990259

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390355C>G (hg19) ; chrX:g.41531102C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531102C>G , CM000685.2:g.41531102C>G	GRCh38
NC_000023.10:g.41390355C>G , CM000685.1:g.41390355C>G	GRCh37
NC_000023.9:g.41275299C>G	NCBI36
NG_016754.1:g.396933G>C
NG_016754.2:g.396933G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378154.3:c.2374G>C	ENSP00000367396.2:p.Gly792Arg
ENST00000378158.6:c.2371G>C	ENSP00000367400.2:p.Gly791Arg
ENST00000378163.7:c.2425G>C MANE Select	ENSP00000367405.1:p.Gly809Arg
ENST00000378166.9:c.2323G>C	ENSP00000367408.5:p.Gly775Arg
ENST00000378168.8:c.2428G>C	ENSP00000367410.4:p.Gly810Arg
ENST00000378179.9:c.1045G>C	ENSP00000367421.4:p.Gly349Arg
ENST00000421587.8:c.2356G>C	ENSP00000400526.4:p.Gly786Arg
ENST00000442742.7:c.2287G>C	ENSP00000398007.3:p.Gly763Arg
ENST00000642499.1:n.1204G>C
ENST00000643733.1:c.197G>C
ENST00000644219.1:c.2407G>C	ENSP00000495357.1:p.Gly803Arg
ENST00000644347.1:c.2338G>C	ENSP00000494183.1:p.Gly780Arg
ENST00000645566.1:c.2410G>C	ENSP00000494788.1:p.Gly804Arg
ENST00000645937.2:n.2656G>C
ENST00000645986.2:c.2392G>C	ENSP00000494409.2:p.Gly798Arg
ENST00000646087.2:c.1747G>C	ENSP00000495510.2:p.Gly583Arg
ENST00000646120.2:c.2341G>C	ENSP00000495291.2:p.Gly781Arg
ENST00000675354.1:c.2359G>C	ENSP00000502315.1:p.Gly787Arg
ENST00000378158.5:c.2374G>C	ENSP00000367400.1:p.Gly792Arg
ENST00000378163.5:c.2425G>C	ENSP00000367405.1:p.Gly809Arg
ENST00000378166.8:c.2410G>C	ENSP00000367408.4:p.Gly804Arg
ENST00000378168.6:c.790G>C	ENSP00000367410.2:p.Gly264Arg
ENST00000378179.7:c.1201G>C	ENSP00000367421.3:p.Gly401Arg
ENST00000421587.6:c.2338G>C	ENSP00000400526.2:p.Gly780Arg
ENST00000442742.6:c.2341G>C	ENSP00000398007.2:p.Gly781Arg
NM_001126054.2:c.2341G>C	NP_001119526.1:p.Gly781Arg
NM_001126055.2:c.2338G>C	NP_001119527.1:p.Gly780Arg
NM_003688.3:c.2410G>C	NP_003679.2:p.Gly804Arg
XM_005272686.3:c.2407G>C	XP_005272743.1:p.Gly803Arg
XM_006724566.2:c.2302G>C	XP_006724629.1:p.Gly768Arg
XM_011543993.1:c.2425G>C	XP_011542295.1:p.Gly809Arg
XM_011543994.1:c.2389G>C	XP_011542296.1:p.Gly797Arg
XM_011543995.1:c.2356G>C	XP_011542297.1:p.Gly786Arg
XM_011543996.1:c.2320G>C	XP_011542298.1:p.Gly774Arg
XM_011543997.1:c.1852G>C	XP_011542299.1:p.Gly618Arg
XM_005272686.4:c.2407G>C	XP_005272743.1:p.Gly803Arg
XM_006724566.3:c.2302G>C	XP_006724629.1:p.Gly768Arg
XM_011543993.2:c.2425G>C	XP_011542295.1:p.Gly809Arg
XM_011543994.2:c.2389G>C	XP_011542296.1:p.Gly797Arg
XM_011543995.2:c.2356G>C	XP_011542297.1:p.Gly786Arg
XM_011543996.2:c.2320G>C	XP_011542298.1:p.Gly774Arg
XM_011543997.3:c.1852G>C	XP_011542299.1:p.Gly618Arg
XM_024452473.1:c.1747G>C	XP_024308241.1:p.Gly583Arg
NM_001367721.1:c.2425G>C MANE Select	NP_001354650.1:p.Gly809Arg