Canonical Allele Identifier: CA412990275

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390359C>G (hg19) ; chrX:g.41531106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531106C>G , CM000685.2:g.41531106C>G	GRCh38
NC_000023.10:g.41390359C>G , CM000685.1:g.41390359C>G	GRCh37
NC_000023.9:g.41275303C>G	NCBI36
NG_016754.1:g.396929G>C
NG_016754.2:g.396929G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378154.3:c.2370G>C	ENSP00000367396.2:p.Glu790Asp
ENST00000378158.6:c.2367G>C	ENSP00000367400.2:p.Glu789Asp
ENST00000378163.7:c.2421G>C MANE Select	ENSP00000367405.1:p.Glu807Asp
ENST00000378166.9:c.2319G>C	ENSP00000367408.5:p.Glu773Asp
ENST00000378168.8:c.2424G>C	ENSP00000367410.4:p.Glu808Asp
ENST00000378179.9:c.1041G>C	ENSP00000367421.4:p.Glu347Asp
ENST00000421587.8:c.2352G>C	ENSP00000400526.4:p.Glu784Asp
ENST00000442742.7:c.2283G>C	ENSP00000398007.3:p.Glu761Asp
ENST00000642499.1:n.1200G>C
ENST00000643733.1:c.193G>C
ENST00000644219.1:c.2403G>C	ENSP00000495357.1:p.Glu801Asp
ENST00000644347.1:c.2334G>C	ENSP00000494183.1:p.Glu778Asp
ENST00000645566.1:c.2406G>C	ENSP00000494788.1:p.Glu802Asp
ENST00000645937.2:n.2652G>C
ENST00000645986.2:c.2388G>C	ENSP00000494409.2:p.Glu796Asp
ENST00000646087.2:c.1743G>C	ENSP00000495510.2:p.Glu581Asp
ENST00000646120.2:c.2337G>C	ENSP00000495291.2:p.Glu779Asp
ENST00000675354.1:c.2355G>C	ENSP00000502315.1:p.Glu785Asp
ENST00000378158.5:c.2370G>C	ENSP00000367400.1:p.Glu790Asp
ENST00000378163.5:c.2421G>C	ENSP00000367405.1:p.Glu807Asp
ENST00000378166.8:c.2406G>C	ENSP00000367408.4:p.Glu802Asp
ENST00000378168.6:c.786G>C	ENSP00000367410.2:p.Glu262Asp
ENST00000378179.7:c.1197G>C	ENSP00000367421.3:p.Glu399Asp
ENST00000421587.6:c.2334G>C	ENSP00000400526.2:p.Glu778Asp
ENST00000442742.6:c.2337G>C	ENSP00000398007.2:p.Glu779Asp
NM_001126054.2:c.2337G>C	NP_001119526.1:p.Glu779Asp
NM_001126055.2:c.2334G>C	NP_001119527.1:p.Glu778Asp
NM_003688.3:c.2406G>C	NP_003679.2:p.Glu802Asp
XM_005272686.3:c.2403G>C	XP_005272743.1:p.Glu801Asp
XM_006724566.2:c.2298G>C	XP_006724629.1:p.Glu766Asp
XM_011543993.1:c.2421G>C	XP_011542295.1:p.Glu807Asp
XM_011543994.1:c.2385G>C	XP_011542296.1:p.Glu795Asp
XM_011543995.1:c.2352G>C	XP_011542297.1:p.Glu784Asp
XM_011543996.1:c.2316G>C	XP_011542298.1:p.Glu772Asp
XM_011543997.1:c.1848G>C	XP_011542299.1:p.Glu616Asp
XM_005272686.4:c.2403G>C	XP_005272743.1:p.Glu801Asp
XM_006724566.3:c.2298G>C	XP_006724629.1:p.Glu766Asp
XM_011543993.2:c.2421G>C	XP_011542295.1:p.Glu807Asp
XM_011543994.2:c.2385G>C	XP_011542296.1:p.Glu795Asp
XM_011543995.2:c.2352G>C	XP_011542297.1:p.Glu784Asp
XM_011543996.2:c.2316G>C	XP_011542298.1:p.Glu772Asp
XM_011543997.3:c.1848G>C	XP_011542299.1:p.Glu616Asp
XM_024452473.1:c.1743G>C	XP_024308241.1:p.Glu581Asp
NM_001367721.1:c.2421G>C MANE Select	NP_001354650.1:p.Glu807Asp