Canonical Allele Identifier: CA280936

Gene: GAS8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.90037837C>T , CM000678.2:g.90037837C>T	GRCh38
NC_000016.9:g.90104245C>T , CM000678.1:g.90104245C>T	GRCh37
NC_000016.8:g.88631746C>T	NCBI36
NG_046598.1:g.23209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268699.9:c.1000C>T MANE Select	ENSP00000268699.4:p.Arg334Ter
ENST00000536122.7:c.925C>T	ENSP00000440977.1:p.Arg309Ter
ENST00000268699.8:c.1000C>T	ENSP00000268699.4:p.Arg334Ter
ENST00000536122.5:c.925C>T	ENSP00000440977.1:p.Arg309Ter
ENST00000540721.5:n.971C>T
ENST00000566266.5:c.*960C>T	ENSP00000454343.1:n.*960C>T
ENST00000569399.1:n.635C>T
ENST00000569558.5:n.1803C>T
ENST00000620723.4:c.751C>T	ENSP00000482877.1:p.Arg251Ter
NM_001286205.1:c.751C>T	NP_001273134.1:p.Arg251Ter
NM_001286208.1:c.424C>T	NP_001273137.1:p.Arg142Ter
NM_001286209.1:c.925C>T	NP_001273138.1:p.Arg309Ter
NM_001481.2:c.1000C>T	NP_001472.1:p.Arg334Ter
XM_005256304.3:c.925C>T	XP_005256361.1:p.Arg309Ter
XM_005256309.3:c.424C>T	XP_005256366.1:p.Arg142Ter
XM_006721175.2:c.751C>T	XP_006721238.1:p.Arg251Ter
XM_011522990.1:c.751C>T	XP_011521292.1:p.Arg251Ter
XM_011522991.1:c.751C>T	XP_011521293.1:p.Arg251Ter
XM_011522992.1:c.751C>T	XP_011521294.1:p.Arg251Ter
XM_005256309.4:c.424C>T	XP_005256366.1:p.Arg142Ter
XM_006721175.3:c.751C>T	XP_006721238.1:p.Arg251Ter
XM_011522990.2:c.751C>T	XP_011521292.1:p.Arg251Ter
XM_011522992.2:c.751C>T	XP_011521294.1:p.Arg251Ter
XM_017023122.1:c.751C>T	XP_016878611.1:p.Arg251Ter
XM_017023123.1:c.751C>T	XP_016878612.1:p.Arg251Ter
XM_017023124.1:c.424C>T	XP_016878613.1:p.Arg142Ter
XM_017023125.1:c.424C>T	XP_016878614.1:p.Arg142Ter
XM_024450228.1:c.925C>T	XP_024305996.1:p.Arg309Ter
NM_001481.3:c.1000C>T MANE Select	NP_001472.1:p.Arg334Ter
NM_001286205.2:c.751C>T	NP_001273134.1:p.Arg251Ter
NM_001286208.2:c.424C>T	NP_001273137.1:p.Arg142Ter
NM_001286209.2:c.925C>T	NP_001273138.1:p.Arg309Ter