Canonical Allele Identifier: CA412989986

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531030C>T , CM000685.2:g.41531030C>T	GRCh38
NC_000023.10:g.41390283C>T , CM000685.1:g.41390283C>T	GRCh37
NC_000023.9:g.41275227C>T	NCBI36
NG_016754.1:g.397005G>A
NG_016754.2:g.397005G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001367721.1:c.2497G>A MANE Select	NP_001354650.1:p.Ala833Thr
ENST00000378163.7:c.2497G>A MANE Select	ENSP00000367405.1:p.Ala833Thr
NM_001126054.2:c.2413G>A	NP_001119526.1:p.Ala805Thr
NM_001126055.2:c.2410G>A	NP_001119527.1:p.Ala804Thr
NM_003688.3:c.2482G>A	NP_003679.2:p.Ala828Thr
ENST00000378154.3:c.2446G>A	ENSP00000367396.2:p.Ala816Thr
ENST00000378158.5:c.2446G>A	ENSP00000367400.1:p.Ala816Thr
ENST00000378158.6:c.2443G>A	ENSP00000367400.2:p.Ala815Thr
ENST00000378163.5:c.2497G>A	ENSP00000367405.1:p.Ala833Thr
ENST00000378166.8:c.2482G>A	ENSP00000367408.4:p.Ala828Thr
ENST00000378166.9:c.2395G>A	ENSP00000367408.5:p.Ala799Thr
ENST00000378168.6:c.862G>A	ENSP00000367410.2:p.Ala288Thr
ENST00000378168.8:c.2500G>A	ENSP00000367410.4:p.Ala834Thr
ENST00000378179.7:c.1273G>A	ENSP00000367421.3:p.Ala425Thr
ENST00000378179.9:c.1117G>A	ENSP00000367421.4:p.Ala373Thr
ENST00000421587.6:c.2410G>A	ENSP00000400526.2:p.Ala804Thr
ENST00000421587.8:c.2428G>A	ENSP00000400526.4:p.Ala810Thr
ENST00000442742.6:c.2413G>A	ENSP00000398007.2:p.Ala805Thr
ENST00000442742.7:c.2359G>A	ENSP00000398007.3:p.Ala787Thr
ENST00000642499.1:n.1276G>A
ENST00000643733.1:c.269G>A
ENST00000644219.1:c.2479G>A	ENSP00000495357.1:p.Ala827Thr
ENST00000644347.1:c.2410G>A	ENSP00000494183.1:p.Ala804Thr
ENST00000645566.1:c.2482G>A	ENSP00000494788.1:p.Ala828Thr
ENST00000645937.2:n.2728G>A
ENST00000645986.2:c.2464G>A	ENSP00000494409.2:p.Ala822Thr
ENST00000646087.2:c.1819G>A	ENSP00000495510.2:p.Ala607Thr
ENST00000646120.2:c.2413G>A	ENSP00000495291.2:p.Ala805Thr
ENST00000675354.1:c.2431G>A	ENSP00000502315.1:p.Ala811Thr
XM_005272686.3:c.2479G>A	XP_005272743.1:p.Ala827Thr
XM_005272686.4:c.2479G>A	XP_005272743.1:p.Ala827Thr
XM_006724566.2:c.2374G>A	XP_006724629.1:p.Ala792Thr
XM_006724566.3:c.2374G>A	XP_006724629.1:p.Ala792Thr
XM_011543993.1:c.2497G>A	XP_011542295.1:p.Ala833Thr
XM_011543993.2:c.2497G>A	XP_011542295.1:p.Ala833Thr
XM_011543994.1:c.2461G>A	XP_011542296.1:p.Ala821Thr
XM_011543994.2:c.2461G>A	XP_011542296.1:p.Ala821Thr
XM_011543995.1:c.2428G>A	XP_011542297.1:p.Ala810Thr
XM_011543995.2:c.2428G>A	XP_011542297.1:p.Ala810Thr
XM_011543996.1:c.2392G>A	XP_011542298.1:p.Ala798Thr
XM_011543996.2:c.2392G>A	XP_011542298.1:p.Ala798Thr
XM_011543997.1:c.1924G>A	XP_011542299.1:p.Ala642Thr
XM_011543997.3:c.1924G>A	XP_011542299.1:p.Ala642Thr
XM_024452473.1:c.1819G>A	XP_024308241.1:p.Ala607Thr