Canonical Allele Identifier: CA222232

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41534706G>A , CM000685.2:g.41534706G>A	GRCh38
NC_000023.10:g.41393959G>A , CM000685.1:g.41393959G>A	GRCh37
NC_000023.9:g.41278903G>A	NCBI36
NG_016754.1:g.393329C>T
NG_016754.2:g.393329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2266C>T	ENSP00000367396.2:p.His756Tyr
ENST00000378158.6:c.2263C>T	ENSP00000367400.2:p.His755Tyr
ENST00000378163.7:c.2317C>T MANE Select	ENSP00000367405.1:p.His773Tyr
ENST00000378166.9:c.2215C>T	ENSP00000367408.5:p.His739Tyr
ENST00000378168.8:c.2320C>T	ENSP00000367410.4:p.His774Tyr
ENST00000378179.9:c.937C>T	ENSP00000367421.4:p.His313Tyr
ENST00000421587.8:c.2248C>T	ENSP00000400526.4:p.His750Tyr
ENST00000442742.7:c.2179C>T	ENSP00000398007.3:p.His727Tyr
ENST00000642499.1:n.1096C>T
ENST00000643733.1:c.89C>T
ENST00000644219.1:c.2299C>T	ENSP00000495357.1:p.His767Tyr
ENST00000644347.1:c.2230C>T	ENSP00000494183.1:p.His744Tyr
ENST00000645566.1:c.2302C>T	ENSP00000494788.1:p.His768Tyr
ENST00000645937.2:n.2548C>T
ENST00000645986.2:c.2284C>T	ENSP00000494409.2:p.His762Tyr
ENST00000646087.2:c.1639C>T	ENSP00000495510.2:p.His547Tyr
ENST00000646120.2:c.2233C>T	ENSP00000495291.2:p.His745Tyr
ENST00000675354.1:c.2251C>T	ENSP00000502315.1:p.His751Tyr
ENST00000378158.5:c.2266C>T	ENSP00000367400.1:p.His756Tyr
ENST00000378163.5:c.2317C>T	ENSP00000367405.1:p.His773Tyr
ENST00000378166.8:c.2302C>T	ENSP00000367408.4:p.His768Tyr
ENST00000378168.6:c.682C>T	ENSP00000367410.2:p.His228Tyr
ENST00000378179.7:c.1093C>T	ENSP00000367421.3:p.His365Tyr
ENST00000421587.6:c.2230C>T	ENSP00000400526.2:p.His744Tyr
ENST00000442742.6:c.2233C>T	ENSP00000398007.2:p.His745Tyr
NM_001126054.2:c.2233C>T	NP_001119526.1:p.His745Tyr
NM_001126055.2:c.2230C>T	NP_001119527.1:p.His744Tyr
NM_003688.3:c.2302C>T	NP_003679.2:p.His768Tyr
XM_005272686.3:c.2299C>T	XP_005272743.1:p.His767Tyr
XM_006724566.2:c.2194C>T	XP_006724629.1:p.His732Tyr
XM_011543993.1:c.2317C>T	XP_011542295.1:p.His773Tyr
XM_011543994.1:c.2281C>T	XP_011542296.1:p.His761Tyr
XM_011543995.1:c.2248C>T	XP_011542297.1:p.His750Tyr
XM_011543996.1:c.2212C>T	XP_011542298.1:p.His738Tyr
XM_011543997.1:c.1744C>T	XP_011542299.1:p.His582Tyr
XM_005272686.4:c.2299C>T	XP_005272743.1:p.His767Tyr
XM_006724566.3:c.2194C>T	XP_006724629.1:p.His732Tyr
XM_011543993.2:c.2317C>T	XP_011542295.1:p.His773Tyr
XM_011543994.2:c.2281C>T	XP_011542296.1:p.His761Tyr
XM_011543995.2:c.2248C>T	XP_011542297.1:p.His750Tyr
XM_011543996.2:c.2212C>T	XP_011542298.1:p.His738Tyr
XM_011543997.3:c.1744C>T	XP_011542299.1:p.His582Tyr
XM_024452473.1:c.1639C>T	XP_024308241.1:p.His547Tyr
NM_001367721.1:c.2317C>T MANE Select	NP_001354650.1:p.His773Tyr