Canonical Allele Identifier: CA412990456

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390403G>C (hg19) ; chrX:g.41531150G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531150G>C , CM000685.2:g.41531150G>C	GRCh38
NC_000023.10:g.41390403G>C , CM000685.1:g.41390403G>C	GRCh37
NC_000023.9:g.41275347G>C	NCBI36
NG_016754.1:g.396885C>G
NG_016754.2:g.396885C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2326C>G	ENSP00000367396.2:p.His776Asp
ENST00000378158.6:c.2323C>G	ENSP00000367400.2:p.His775Asp
ENST00000378163.7:c.2377C>G MANE Select	ENSP00000367405.1:p.His793Asp
ENST00000378166.9:c.2275C>G	ENSP00000367408.5:p.His759Asp
ENST00000378168.8:c.2380C>G	ENSP00000367410.4:p.His794Asp
ENST00000378179.9:c.997C>G	ENSP00000367421.4:p.His333Asp
ENST00000421587.8:c.2308C>G	ENSP00000400526.4:p.His770Asp
ENST00000442742.7:c.2239C>G	ENSP00000398007.3:p.His747Asp
ENST00000642499.1:n.1156C>G
ENST00000643733.1:c.149C>G
ENST00000644219.1:c.2359C>G	ENSP00000495357.1:p.His787Asp
ENST00000644347.1:c.2290C>G	ENSP00000494183.1:p.His764Asp
ENST00000645566.1:c.2362C>G	ENSP00000494788.1:p.His788Asp
ENST00000645937.2:n.2608C>G
ENST00000645986.2:c.2344C>G	ENSP00000494409.2:p.His782Asp
ENST00000646087.2:c.1699C>G	ENSP00000495510.2:p.His567Asp
ENST00000646120.2:c.2293C>G	ENSP00000495291.2:p.His765Asp
ENST00000675354.1:c.2311C>G	ENSP00000502315.1:p.His771Asp
ENST00000378158.5:c.2326C>G	ENSP00000367400.1:p.His776Asp
ENST00000378163.5:c.2377C>G	ENSP00000367405.1:p.His793Asp
ENST00000378166.8:c.2362C>G	ENSP00000367408.4:p.His788Asp
ENST00000378168.6:c.742C>G	ENSP00000367410.2:p.His248Asp
ENST00000378179.7:c.1153C>G	ENSP00000367421.3:p.His385Asp
ENST00000421587.6:c.2290C>G	ENSP00000400526.2:p.His764Asp
ENST00000442742.6:c.2293C>G	ENSP00000398007.2:p.His765Asp
NM_001126054.2:c.2293C>G	NP_001119526.1:p.His765Asp
NM_001126055.2:c.2290C>G	NP_001119527.1:p.His764Asp
NM_003688.3:c.2362C>G	NP_003679.2:p.His788Asp
XM_005272686.3:c.2359C>G	XP_005272743.1:p.His787Asp
XM_006724566.2:c.2254C>G	XP_006724629.1:p.His752Asp
XM_011543993.1:c.2377C>G	XP_011542295.1:p.His793Asp
XM_011543994.1:c.2341C>G	XP_011542296.1:p.His781Asp
XM_011543995.1:c.2308C>G	XP_011542297.1:p.His770Asp
XM_011543996.1:c.2272C>G	XP_011542298.1:p.His758Asp
XM_011543997.1:c.1804C>G	XP_011542299.1:p.His602Asp
XM_005272686.4:c.2359C>G	XP_005272743.1:p.His787Asp
XM_006724566.3:c.2254C>G	XP_006724629.1:p.His752Asp
XM_011543993.2:c.2377C>G	XP_011542295.1:p.His793Asp
XM_011543994.2:c.2341C>G	XP_011542296.1:p.His781Asp
XM_011543995.2:c.2308C>G	XP_011542297.1:p.His770Asp
XM_011543996.2:c.2272C>G	XP_011542298.1:p.His758Asp
XM_011543997.3:c.1804C>G	XP_011542299.1:p.His602Asp
XM_024452473.1:c.1699C>G	XP_024308241.1:p.His567Asp
NM_001367721.1:c.2377C>G MANE Select	NP_001354650.1:p.His793Asp