Canonical Allele Identifier: CA497196152

Gene: GAS8

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.90037839A>T , CM000678.2:g.90037839A>T	GRCh38
NC_000016.9:g.90104247A>T , CM000678.1:g.90104247A>T	GRCh37
NC_000016.8:g.88631748A>T	NCBI36
NG_046598.1:g.23211A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001481.3:c.1002A>T MANE Select	NP_001472.1:p.Arg334=
ENST00000268699.9:c.1002A>T MANE Select	ENSP00000268699.4:p.Arg334=
NM_001286205.1:c.753A>T	NP_001273134.1:p.Arg251=
NM_001286205.2:c.753A>T	NP_001273134.1:p.Arg251=
NM_001286208.1:c.426A>T	NP_001273137.1:p.Arg142=
NM_001286208.2:c.426A>T	NP_001273137.1:p.Arg142=
NM_001286209.1:c.927A>T	NP_001273138.1:p.Arg309=
NM_001286209.2:c.927A>T	NP_001273138.1:p.Arg309=
NM_001481.2:c.1002A>T	NP_001472.1:p.Arg334=
ENST00000268699.8:c.1002A>T	ENSP00000268699.4:p.Arg334=
ENST00000536122.5:c.927A>T	ENSP00000440977.1:p.Arg309=
ENST00000536122.7:c.927A>T	ENSP00000440977.1:p.Arg309=
ENST00000540721.5:n.973A>T
ENST00000566266.5:c.*962A>T	ENSP00000454343.1:n.*962A>T
ENST00000569399.1:n.637A>T
ENST00000569558.5:n.1805A>T
ENST00000620723.4:c.753A>T	ENSP00000482877.1:p.Arg251=
XM_005256304.3:c.927A>T	XP_005256361.1:p.Arg309=
XM_005256309.3:c.426A>T	XP_005256366.1:p.Arg142=
XM_005256309.4:c.426A>T	XP_005256366.1:p.Arg142=
XM_006721175.2:c.753A>T	XP_006721238.1:p.Arg251=
XM_006721175.3:c.753A>T	XP_006721238.1:p.Arg251=
XM_011522990.1:c.753A>T	XP_011521292.1:p.Arg251=
XM_011522990.2:c.753A>T	XP_011521292.1:p.Arg251=
XM_011522991.1:c.753A>T	XP_011521293.1:p.Arg251=
XM_011522992.1:c.753A>T	XP_011521294.1:p.Arg251=
XM_011522992.2:c.753A>T	XP_011521294.1:p.Arg251=
XM_017023122.1:c.753A>T	XP_016878611.1:p.Arg251=
XM_017023123.1:c.753A>T	XP_016878612.1:p.Arg251=
XM_017023124.1:c.426A>T	XP_016878613.1:p.Arg142=
XM_017023125.1:c.426A>T	XP_016878614.1:p.Arg142=
XM_024450228.1:c.927A>T	XP_024305996.1:p.Arg309=