Canonical Allele Identifier: CA397469914

Gene: GAS8 URAHP

Linked Data

• ClinVar Variation Id: 1007085
• ClinVar RCV Id: RCV001304223
• dbSNP Id: rs532241934
• gnomAD v3: 16-90040313-G-C
• gnomAD v4: 16-90040313-G-C
• MyVariant Identifiers: chr16:g.90106721G>C (hg19) ; chr16:g.90040313G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.90040313G>C , CM000678.2:g.90040313G>C	GRCh38
NC_000016.9:g.90106721G>C , CM000678.1:g.90106721G>C	GRCh37
NC_000016.8:g.88634222G>C	NCBI36
NG_046598.1:g.25685G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268699.9:c.1025G>C (GAS8) MANE Select	ENSP00000268699.4:p.Arg342Pro
ENST00000536122.7:c.950G>C (GAS8)	ENSP00000440977.1:p.Arg317Pro
ENST00000268699.8:c.1025G>C (GAS8)	ENSP00000268699.4:p.Arg342Pro
ENST00000409873.5:n.797C>G (URAHP)
ENST00000536122.5:c.950G>C (GAS8)	ENSP00000440977.1:p.Arg317Pro
ENST00000540721.5:n.996G>C (GAS8)
ENST00000564789.5:n.271G>C (GAS8)
ENST00000566266.5:c.*985G>C (GAS8)	ENSP00000454343.1:n.*985G>C
ENST00000569399.1:n.660G>C (GAS8)
ENST00000569558.5:n.1828G>C (GAS8)
ENST00000620723.4:c.776G>C (GAS8)	ENSP00000482877.1:p.Arg259Pro
NM_001286205.1:c.776G>C (GAS8)	NP_001273134.1:p.Arg259Pro
NM_001286208.1:c.449G>C (GAS8)	NP_001273137.1:p.Arg150Pro
NM_001286209.1:c.950G>C (GAS8)	NP_001273138.1:p.Arg317Pro
NM_001481.2:c.1025G>C (GAS8)	NP_001472.1:p.Arg342Pro
NR_027335.2:n.797C>G (URAHP)
XM_005256304.3:c.950G>C (GAS8)	XP_005256361.1:p.Arg317Pro
XM_005256309.3:c.449G>C (GAS8)	XP_005256366.1:p.Arg150Pro
XM_006721175.2:c.776G>C (GAS8)	XP_006721238.1:p.Arg259Pro
XM_011522990.1:c.776G>C (GAS8)	XP_011521292.1:p.Arg259Pro
XM_011522991.1:c.776G>C (GAS8)	XP_011521293.1:p.Arg259Pro
XM_011522992.1:c.776G>C (GAS8)	XP_011521294.1:p.Arg259Pro
XM_005256309.4:c.449G>C (GAS8)	XP_005256366.1:p.Arg150Pro
XM_006721175.3:c.776G>C (GAS8)	XP_006721238.1:p.Arg259Pro
XM_011522990.2:c.776G>C (GAS8)	XP_011521292.1:p.Arg259Pro
XM_011522992.2:c.776G>C (GAS8)	XP_011521294.1:p.Arg259Pro
XM_017023122.1:c.776G>C (GAS8)	XP_016878611.1:p.Arg259Pro
XM_017023123.1:c.776G>C (GAS8)	XP_016878612.1:p.Arg259Pro
XM_017023124.1:c.449G>C (GAS8)	XP_016878613.1:p.Arg150Pro
XM_017023125.1:c.449G>C (GAS8)	XP_016878614.1:p.Arg150Pro
XM_024450228.1:c.950G>C (GAS8)	XP_024305996.1:p.Arg317Pro
NM_001481.3:c.1025G>C (GAS8) MANE Select	NP_001472.1:p.Arg342Pro
NM_001286205.2:c.776G>C (GAS8)	NP_001273134.1:p.Arg259Pro
NM_001286208.2:c.449G>C (GAS8)	NP_001273137.1:p.Arg150Pro
NM_001286209.2:c.950G>C (GAS8)	NP_001273138.1:p.Arg317Pro