Canonical Allele Identifier: CA397470299

Gene: GAS8 URAHP

Linked Data

• gnomAD v4: 16-90040384-G-T
• MyVariant Identifiers: chr16:g.90106792G>T (hg19) ; chr16:g.90040384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.90040384G>T , CM000678.2:g.90040384G>T	GRCh38
NC_000016.9:g.90106792G>T , CM000678.1:g.90106792G>T	GRCh37
NC_000016.8:g.88634293G>T	NCBI36
NG_046598.1:g.25756G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268699.9:c.1096G>T (GAS8) MANE Select	ENSP00000268699.4:p.Val366Leu
ENST00000536122.7:c.1021G>T (GAS8)	ENSP00000440977.1:p.Val341Leu
ENST00000268699.8:c.1096G>T (GAS8)	ENSP00000268699.4:p.Val366Leu
ENST00000409873.5:n.726C>A (URAHP)
ENST00000536122.5:c.1021G>T (GAS8)	ENSP00000440977.1:p.Val341Leu
ENST00000540721.5:n.1067G>T (GAS8)
ENST00000564789.5:n.342G>T (GAS8)
ENST00000566266.5:c.*1056G>T (GAS8)	ENSP00000454343.1:n.*1056G>T
ENST00000569399.1:n.731G>T (GAS8)
ENST00000569558.5:n.1899G>T (GAS8)
ENST00000620723.4:c.847G>T (GAS8)	ENSP00000482877.1:p.Val283Leu
NM_001286205.1:c.847G>T (GAS8)	NP_001273134.1:p.Val283Leu
NM_001286208.1:c.520G>T (GAS8)	NP_001273137.1:p.Val174Leu
NM_001286209.1:c.1021G>T (GAS8)	NP_001273138.1:p.Val341Leu
NM_001481.2:c.1096G>T (GAS8)	NP_001472.1:p.Val366Leu
NR_027335.2:n.726C>A (URAHP)
XM_005256304.3:c.1021G>T (GAS8)	XP_005256361.1:p.Val341Leu
XM_005256309.3:c.520G>T (GAS8)	XP_005256366.1:p.Val174Leu
XM_006721175.2:c.847G>T (GAS8)	XP_006721238.1:p.Val283Leu
XM_011522990.1:c.847G>T (GAS8)	XP_011521292.1:p.Val283Leu
XM_011522991.1:c.847G>T (GAS8)	XP_011521293.1:p.Val283Leu
XM_011522992.1:c.847G>T (GAS8)	XP_011521294.1:p.Val283Leu
XM_005256309.4:c.520G>T (GAS8)	XP_005256366.1:p.Val174Leu
XM_006721175.3:c.847G>T (GAS8)	XP_006721238.1:p.Val283Leu
XM_011522990.2:c.847G>T (GAS8)	XP_011521292.1:p.Val283Leu
XM_011522992.2:c.847G>T (GAS8)	XP_011521294.1:p.Val283Leu
XM_017023122.1:c.847G>T (GAS8)	XP_016878611.1:p.Val283Leu
XM_017023123.1:c.847G>T (GAS8)	XP_016878612.1:p.Val283Leu
XM_017023124.1:c.520G>T (GAS8)	XP_016878613.1:p.Val174Leu
XM_017023125.1:c.520G>T (GAS8)	XP_016878614.1:p.Val174Leu
XM_024450228.1:c.1021G>T (GAS8)	XP_024305996.1:p.Val341Leu
NM_001481.3:c.1096G>T (GAS8) MANE Select	NP_001472.1:p.Val366Leu
NM_001286205.2:c.847G>T (GAS8)	NP_001273134.1:p.Val283Leu
NM_001286208.2:c.520G>T (GAS8)	NP_001273137.1:p.Val174Leu
NM_001286209.2:c.1021G>T (GAS8)	NP_001273138.1:p.Val341Leu