Canonical Allele Identifier: CA412991689

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41534786C>T , CM000685.2:g.41534786C>T	GRCh38
NC_000023.10:g.41394039C>T , CM000685.1:g.41394039C>T	GRCh37
NC_000023.9:g.41278983C>T	NCBI36
NG_016754.1:g.393249G>A
NG_016754.2:g.393249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2186G>A	ENSP00000367396.2:p.Gly729Asp
ENST00000378158.6:c.2183G>A	ENSP00000367400.2:p.Gly728Asp
ENST00000378163.7:c.2237G>A MANE Select	ENSP00000367405.1:p.Gly746Asp
ENST00000378166.9:c.2135G>A	ENSP00000367408.5:p.Gly712Asp
ENST00000378168.8:c.2240G>A	ENSP00000367410.4:p.Gly747Asp
ENST00000378179.9:c.857G>A	ENSP00000367421.4:p.Gly286Asp
ENST00000421587.8:c.2168G>A	ENSP00000400526.4:p.Gly723Asp
ENST00000442742.7:c.2099G>A	ENSP00000398007.3:p.Gly700Asp
ENST00000642499.1:n.1016G>A
ENST00000643733.1:c.9G>A
ENST00000644219.1:c.2219G>A	ENSP00000495357.1:p.Gly740Asp
ENST00000644347.1:c.2150G>A	ENSP00000494183.1:p.Gly717Asp
ENST00000645566.1:c.2222G>A	ENSP00000494788.1:p.Gly741Asp
ENST00000645937.2:n.2468G>A
ENST00000645986.2:c.2204G>A	ENSP00000494409.2:p.Gly735Asp
ENST00000646087.2:c.1559G>A	ENSP00000495510.2:p.Gly520Asp
ENST00000646120.2:c.2153G>A	ENSP00000495291.2:p.Gly718Asp
ENST00000675354.1:c.2171G>A	ENSP00000502315.1:p.Gly724Asp
ENST00000378158.5:c.2186G>A	ENSP00000367400.1:p.Gly729Asp
ENST00000378163.5:c.2237G>A	ENSP00000367405.1:p.Gly746Asp
ENST00000378166.8:c.2222G>A	ENSP00000367408.4:p.Gly741Asp
ENST00000378168.6:c.602G>A	ENSP00000367410.2:p.Gly201Asp
ENST00000378179.7:c.1013G>A	ENSP00000367421.3:p.Gly338Asp
ENST00000421587.6:c.2150G>A	ENSP00000400526.2:p.Gly717Asp
ENST00000442742.6:c.2153G>A	ENSP00000398007.2:p.Gly718Asp
NM_001126054.2:c.2153G>A	NP_001119526.1:p.Gly718Asp
NM_001126055.2:c.2150G>A	NP_001119527.1:p.Gly717Asp
NM_003688.3:c.2222G>A	NP_003679.2:p.Gly741Asp
XM_005272686.3:c.2219G>A	XP_005272743.1:p.Gly740Asp
XM_006724566.2:c.2114G>A	XP_006724629.1:p.Gly705Asp
XM_011543993.1:c.2237G>A	XP_011542295.1:p.Gly746Asp
XM_011543994.1:c.2201G>A	XP_011542296.1:p.Gly734Asp
XM_011543995.1:c.2168G>A	XP_011542297.1:p.Gly723Asp
XM_011543996.1:c.2132G>A	XP_011542298.1:p.Gly711Asp
XM_011543997.1:c.1664G>A	XP_011542299.1:p.Gly555Asp
XM_005272686.4:c.2219G>A	XP_005272743.1:p.Gly740Asp
XM_006724566.3:c.2114G>A	XP_006724629.1:p.Gly705Asp
XM_011543993.2:c.2237G>A	XP_011542295.1:p.Gly746Asp
XM_011543994.2:c.2201G>A	XP_011542296.1:p.Gly734Asp
XM_011543995.2:c.2168G>A	XP_011542297.1:p.Gly723Asp
XM_011543996.2:c.2132G>A	XP_011542298.1:p.Gly711Asp
XM_011543997.3:c.1664G>A	XP_011542299.1:p.Gly555Asp
XM_024452473.1:c.1559G>A	XP_024308241.1:p.Gly520Asp
NM_001367721.1:c.2237G>A MANE Select	NP_001354650.1:p.Gly746Asp