Canonical Allele Identifier: CA497196330

Gene: GAS8 URAHP

Linked Data

• dbSNP Id: rs768412907
• gnomAD v4: 16-90040312-C-A
• MyVariant Identifiers: chr16:g.90106720C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.90040312C>A , CM000678.2:g.90040312C>A	GRCh38
NC_000016.9:g.90106720C>A , CM000678.1:g.90106720C>A	GRCh37
NC_000016.8:g.88634221C>A	NCBI36
NG_046598.1:g.25684C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268699.9:c.1024C>A (GAS8) MANE Select	ENSP00000268699.4:p.Arg342=
ENST00000536122.7:c.949C>A (GAS8)	ENSP00000440977.1:p.Arg317=
ENST00000268699.8:c.1024C>A (GAS8)	ENSP00000268699.4:p.Arg342=
ENST00000409873.5:n.798G>T (URAHP)
ENST00000536122.5:c.949C>A (GAS8)	ENSP00000440977.1:p.Arg317=
ENST00000540721.5:n.995C>A (GAS8)
ENST00000564789.5:n.270C>A (GAS8)
ENST00000566266.5:c.*984C>A (GAS8)	ENSP00000454343.1:n.*984C>A
ENST00000569399.1:n.659C>A (GAS8)
ENST00000569558.5:n.1827C>A (GAS8)
ENST00000620723.4:c.775C>A (GAS8)	ENSP00000482877.1:p.Arg259=
NM_001286205.1:c.775C>A (GAS8)	NP_001273134.1:p.Arg259=
NM_001286208.1:c.448C>A (GAS8)	NP_001273137.1:p.Arg150=
NM_001286209.1:c.949C>A (GAS8)	NP_001273138.1:p.Arg317=
NM_001481.2:c.1024C>A (GAS8)	NP_001472.1:p.Arg342=
NR_027335.2:n.798G>T (URAHP)
XM_005256304.3:c.949C>A (GAS8)	XP_005256361.1:p.Arg317=
XM_005256309.3:c.448C>A (GAS8)	XP_005256366.1:p.Arg150=
XM_006721175.2:c.775C>A (GAS8)	XP_006721238.1:p.Arg259=
XM_011522990.1:c.775C>A (GAS8)	XP_011521292.1:p.Arg259=
XM_011522991.1:c.775C>A (GAS8)	XP_011521293.1:p.Arg259=
XM_011522992.1:c.775C>A (GAS8)	XP_011521294.1:p.Arg259=
XM_005256309.4:c.448C>A (GAS8)	XP_005256366.1:p.Arg150=
XM_006721175.3:c.775C>A (GAS8)	XP_006721238.1:p.Arg259=
XM_011522990.2:c.775C>A (GAS8)	XP_011521292.1:p.Arg259=
XM_011522992.2:c.775C>A (GAS8)	XP_011521294.1:p.Arg259=
XM_017023122.1:c.775C>A (GAS8)	XP_016878611.1:p.Arg259=
XM_017023123.1:c.775C>A (GAS8)	XP_016878612.1:p.Arg259=
XM_017023124.1:c.448C>A (GAS8)	XP_016878613.1:p.Arg150=
XM_017023125.1:c.448C>A (GAS8)	XP_016878614.1:p.Arg150=
XM_024450228.1:c.949C>A (GAS8)	XP_024305996.1:p.Arg317=
NM_001481.3:c.1024C>A (GAS8) MANE Select	NP_001472.1:p.Arg342=
NM_001286205.2:c.775C>A (GAS8)	NP_001273134.1:p.Arg259=
NM_001286208.2:c.448C>A (GAS8)	NP_001273137.1:p.Arg150=
NM_001286209.2:c.949C>A (GAS8)	NP_001273138.1:p.Arg317=