Canonical Allele Identifier: CA412989981

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390282G>C (hg19) ; chrX:g.41531029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531029G>C , CM000685.2:g.41531029G>C	GRCh38
NC_000023.10:g.41390282G>C , CM000685.1:g.41390282G>C	GRCh37
NC_000023.9:g.41275226G>C	NCBI36
NG_016754.1:g.397006C>G
NG_016754.2:g.397006C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2447C>G	ENSP00000367396.2:p.Ala816Gly
ENST00000378158.6:c.2444C>G	ENSP00000367400.2:p.Ala815Gly
ENST00000378163.7:c.2498C>G MANE Select	ENSP00000367405.1:p.Ala833Gly
ENST00000378166.9:c.2396C>G	ENSP00000367408.5:p.Ala799Gly
ENST00000378168.8:c.2501C>G	ENSP00000367410.4:p.Ala834Gly
ENST00000378179.9:c.1118C>G	ENSP00000367421.4:p.Ala373Gly
ENST00000421587.8:c.2429C>G	ENSP00000400526.4:p.Ala810Gly
ENST00000442742.7:c.2360C>G	ENSP00000398007.3:p.Ala787Gly
ENST00000642499.1:n.1277C>G
ENST00000643733.1:c.270C>G
ENST00000644219.1:c.2480C>G	ENSP00000495357.1:p.Ala827Gly
ENST00000644347.1:c.2411C>G	ENSP00000494183.1:p.Ala804Gly
ENST00000645566.1:c.2483C>G	ENSP00000494788.1:p.Ala828Gly
ENST00000645937.2:n.2729C>G
ENST00000645986.2:c.2465C>G	ENSP00000494409.2:p.Ala822Gly
ENST00000646087.2:c.1820C>G	ENSP00000495510.2:p.Ala607Gly
ENST00000646120.2:c.2414C>G	ENSP00000495291.2:p.Ala805Gly
ENST00000675354.1:c.2432C>G	ENSP00000502315.1:p.Ala811Gly
ENST00000378158.5:c.2447C>G	ENSP00000367400.1:p.Ala816Gly
ENST00000378163.5:c.2498C>G	ENSP00000367405.1:p.Ala833Gly
ENST00000378166.8:c.2483C>G	ENSP00000367408.4:p.Ala828Gly
ENST00000378168.6:c.863C>G	ENSP00000367410.2:p.Ala288Gly
ENST00000378179.7:c.1274C>G	ENSP00000367421.3:p.Ala425Gly
ENST00000421587.6:c.2411C>G	ENSP00000400526.2:p.Ala804Gly
ENST00000442742.6:c.2414C>G	ENSP00000398007.2:p.Ala805Gly
NM_001126054.2:c.2414C>G	NP_001119526.1:p.Ala805Gly
NM_001126055.2:c.2411C>G	NP_001119527.1:p.Ala804Gly
NM_003688.3:c.2483C>G	NP_003679.2:p.Ala828Gly
XM_005272686.3:c.2480C>G	XP_005272743.1:p.Ala827Gly
XM_006724566.2:c.2375C>G	XP_006724629.1:p.Ala792Gly
XM_011543993.1:c.2498C>G	XP_011542295.1:p.Ala833Gly
XM_011543994.1:c.2462C>G	XP_011542296.1:p.Ala821Gly
XM_011543995.1:c.2429C>G	XP_011542297.1:p.Ala810Gly
XM_011543996.1:c.2393C>G	XP_011542298.1:p.Ala798Gly
XM_011543997.1:c.1925C>G	XP_011542299.1:p.Ala642Gly
XM_005272686.4:c.2480C>G	XP_005272743.1:p.Ala827Gly
XM_006724566.3:c.2375C>G	XP_006724629.1:p.Ala792Gly
XM_011543993.2:c.2498C>G	XP_011542295.1:p.Ala833Gly
XM_011543994.2:c.2462C>G	XP_011542296.1:p.Ala821Gly
XM_011543995.2:c.2429C>G	XP_011542297.1:p.Ala810Gly
XM_011543996.2:c.2393C>G	XP_011542298.1:p.Ala798Gly
XM_011543997.3:c.1925C>G	XP_011542299.1:p.Ala642Gly
XM_024452473.1:c.1820C>G	XP_024308241.1:p.Ala607Gly
NM_001367721.1:c.2498C>G MANE Select	NP_001354650.1:p.Ala833Gly