Canonical Allele Identifier: CA412989947

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390273T>A (hg19) ; chrX:g.41531020T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531020T>A , CM000685.2:g.41531020T>A	GRCh38
NC_000023.10:g.41390273T>A , CM000685.1:g.41390273T>A	GRCh37
NC_000023.9:g.41275217T>A	NCBI36
NG_016754.1:g.397015A>T
NG_016754.2:g.397015A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2456A>T	ENSP00000367396.2:p.Asp819Val
ENST00000378158.6:c.2453A>T	ENSP00000367400.2:p.Asp818Val
ENST00000378163.7:c.2507A>T MANE Select	ENSP00000367405.1:p.Asp836Val
ENST00000378166.9:c.2405A>T	ENSP00000367408.5:p.Asp802Val
ENST00000378168.8:c.2510A>T	ENSP00000367410.4:p.Asp837Val
ENST00000378179.9:c.1127A>T	ENSP00000367421.4:p.Asp376Val
ENST00000421587.8:c.2438A>T	ENSP00000400526.4:p.Asp813Val
ENST00000442742.7:c.2369A>T	ENSP00000398007.3:p.Asp790Val
ENST00000642499.1:n.1286A>T
ENST00000643733.1:c.279A>T
ENST00000644219.1:c.2489A>T	ENSP00000495357.1:p.Asp830Val
ENST00000644347.1:c.2420A>T	ENSP00000494183.1:p.Asp807Val
ENST00000645566.1:c.2492A>T	ENSP00000494788.1:p.Asp831Val
ENST00000645937.2:n.2738A>T
ENST00000645986.2:c.2474A>T	ENSP00000494409.2:p.Asp825Val
ENST00000646087.2:c.1829A>T	ENSP00000495510.2:p.Asp610Val
ENST00000646120.2:c.2423A>T	ENSP00000495291.2:p.Asp808Val
ENST00000675354.1:c.2441A>T	ENSP00000502315.1:p.Asp814Val
ENST00000378158.5:c.2456A>T	ENSP00000367400.1:p.Asp819Val
ENST00000378163.5:c.2507A>T	ENSP00000367405.1:p.Asp836Val
ENST00000378166.8:c.2492A>T	ENSP00000367408.4:p.Asp831Val
ENST00000378168.6:c.872A>T	ENSP00000367410.2:p.Asp291Val
ENST00000378179.7:c.1283A>T	ENSP00000367421.3:p.Asp428Val
ENST00000421587.6:c.2420A>T	ENSP00000400526.2:p.Asp807Val
ENST00000442742.6:c.2423A>T	ENSP00000398007.2:p.Asp808Val
NM_001126054.2:c.2423A>T	NP_001119526.1:p.Asp808Val
NM_001126055.2:c.2420A>T	NP_001119527.1:p.Asp807Val
NM_003688.3:c.2492A>T	NP_003679.2:p.Asp831Val
XM_005272686.3:c.2489A>T	XP_005272743.1:p.Asp830Val
XM_006724566.2:c.2384A>T	XP_006724629.1:p.Asp795Val
XM_011543993.1:c.2507A>T	XP_011542295.1:p.Asp836Val
XM_011543994.1:c.2471A>T	XP_011542296.1:p.Asp824Val
XM_011543995.1:c.2438A>T	XP_011542297.1:p.Asp813Val
XM_011543996.1:c.2402A>T	XP_011542298.1:p.Asp801Val
XM_011543997.1:c.1934A>T	XP_011542299.1:p.Asp645Val
XM_005272686.4:c.2489A>T	XP_005272743.1:p.Asp830Val
XM_006724566.3:c.2384A>T	XP_006724629.1:p.Asp795Val
XM_011543993.2:c.2507A>T	XP_011542295.1:p.Asp836Val
XM_011543994.2:c.2471A>T	XP_011542296.1:p.Asp824Val
XM_011543995.2:c.2438A>T	XP_011542297.1:p.Asp813Val
XM_011543996.2:c.2402A>T	XP_011542298.1:p.Asp801Val
XM_011543997.3:c.1934A>T	XP_011542299.1:p.Asp645Val
XM_024452473.1:c.1829A>T	XP_024308241.1:p.Asp610Val
NM_001367721.1:c.2507A>T MANE Select	NP_001354650.1:p.Asp836Val