Canonical Allele Identifier: CA412990384

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390386T>G (hg19) ; chrX:g.41531133T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531133T>G , CM000685.2:g.41531133T>G	GRCh38
NC_000023.10:g.41390386T>G , CM000685.1:g.41390386T>G	GRCh37
NC_000023.9:g.41275330T>G	NCBI36
NG_016754.1:g.396902A>C
NG_016754.2:g.396902A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2343A>C	ENSP00000367396.2:p.Gln781His
ENST00000378158.6:c.2340A>C	ENSP00000367400.2:p.Gln780His
ENST00000378163.7:c.2394A>C MANE Select	ENSP00000367405.1:p.Gln798His
ENST00000378166.9:c.2292A>C	ENSP00000367408.5:p.Gln764His
ENST00000378168.8:c.2397A>C	ENSP00000367410.4:p.Gln799His
ENST00000378179.9:c.1014A>C	ENSP00000367421.4:p.Gln338His
ENST00000421587.8:c.2325A>C	ENSP00000400526.4:p.Gln775His
ENST00000442742.7:c.2256A>C	ENSP00000398007.3:p.Gln752His
ENST00000642499.1:n.1173A>C
ENST00000643733.1:c.166A>C
ENST00000644219.1:c.2376A>C	ENSP00000495357.1:p.Gln792His
ENST00000644347.1:c.2307A>C	ENSP00000494183.1:p.Gln769His
ENST00000645566.1:c.2379A>C	ENSP00000494788.1:p.Gln793His
ENST00000645937.2:n.2625A>C
ENST00000645986.2:c.2361A>C	ENSP00000494409.2:p.Gln787His
ENST00000646087.2:c.1716A>C	ENSP00000495510.2:p.Gln572His
ENST00000646120.2:c.2310A>C	ENSP00000495291.2:p.Gln770His
ENST00000675354.1:c.2328A>C	ENSP00000502315.1:p.Gln776His
ENST00000378158.5:c.2343A>C	ENSP00000367400.1:p.Gln781His
ENST00000378163.5:c.2394A>C	ENSP00000367405.1:p.Gln798His
ENST00000378166.8:c.2379A>C	ENSP00000367408.4:p.Gln793His
ENST00000378168.6:c.759A>C	ENSP00000367410.2:p.Gln253His
ENST00000378179.7:c.1170A>C	ENSP00000367421.3:p.Gln390His
ENST00000421587.6:c.2307A>C	ENSP00000400526.2:p.Gln769His
ENST00000442742.6:c.2310A>C	ENSP00000398007.2:p.Gln770His
NM_001126054.2:c.2310A>C	NP_001119526.1:p.Gln770His
NM_001126055.2:c.2307A>C	NP_001119527.1:p.Gln769His
NM_003688.3:c.2379A>C	NP_003679.2:p.Gln793His
XM_005272686.3:c.2376A>C	XP_005272743.1:p.Gln792His
XM_006724566.2:c.2271A>C	XP_006724629.1:p.Gln757His
XM_011543993.1:c.2394A>C	XP_011542295.1:p.Gln798His
XM_011543994.1:c.2358A>C	XP_011542296.1:p.Gln786His
XM_011543995.1:c.2325A>C	XP_011542297.1:p.Gln775His
XM_011543996.1:c.2289A>C	XP_011542298.1:p.Gln763His
XM_011543997.1:c.1821A>C	XP_011542299.1:p.Gln607His
XM_005272686.4:c.2376A>C	XP_005272743.1:p.Gln792His
XM_006724566.3:c.2271A>C	XP_006724629.1:p.Gln757His
XM_011543993.2:c.2394A>C	XP_011542295.1:p.Gln798His
XM_011543994.2:c.2358A>C	XP_011542296.1:p.Gln786His
XM_011543995.2:c.2325A>C	XP_011542297.1:p.Gln775His
XM_011543996.2:c.2289A>C	XP_011542298.1:p.Gln763His
XM_011543997.3:c.1821A>C	XP_011542299.1:p.Gln607His
XM_024452473.1:c.1716A>C	XP_024308241.1:p.Gln572His
NM_001367721.1:c.2394A>C MANE Select	NP_001354650.1:p.Gln798His