Canonical Allele Identifier: CA397469987

Gene: GAS8 URAHP

Linked Data

• ClinVar Variation Id: 1500649
• ClinVar RCV Id: RCV002015812
• dbSNP Id: rs2037162822
• gnomAD v3: 16-90040325-A-G
• gnomAD v4: 16-90040325-A-G
• MyVariant Identifiers: chr16:g.90106733A>G (hg19) ; chr16:g.90040325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.90040325A>G , CM000678.2:g.90040325A>G	GRCh38
NC_000016.9:g.90106733A>G , CM000678.1:g.90106733A>G	GRCh37
NC_000016.8:g.88634234A>G	NCBI36
NG_046598.1:g.25697A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268699.9:c.1037A>G (GAS8) MANE Select	ENSP00000268699.4:p.Tyr346Cys
ENST00000536122.7:c.962A>G (GAS8)	ENSP00000440977.1:p.Tyr321Cys
ENST00000268699.8:c.1037A>G (GAS8)	ENSP00000268699.4:p.Tyr346Cys
ENST00000409873.5:n.785T>C (URAHP)
ENST00000536122.5:c.962A>G (GAS8)	ENSP00000440977.1:p.Tyr321Cys
ENST00000540721.5:n.1008A>G (GAS8)
ENST00000564789.5:n.283A>G (GAS8)
ENST00000566266.5:c.*997A>G (GAS8)	ENSP00000454343.1:n.*997A>G
ENST00000569399.1:n.672A>G (GAS8)
ENST00000569558.5:n.1840A>G (GAS8)
ENST00000620723.4:c.788A>G (GAS8)	ENSP00000482877.1:p.Tyr263Cys
NM_001286205.1:c.788A>G (GAS8)	NP_001273134.1:p.Tyr263Cys
NM_001286208.1:c.461A>G (GAS8)	NP_001273137.1:p.Tyr154Cys
NM_001286209.1:c.962A>G (GAS8)	NP_001273138.1:p.Tyr321Cys
NM_001481.2:c.1037A>G (GAS8)	NP_001472.1:p.Tyr346Cys
NR_027335.2:n.785T>C (URAHP)
XM_005256304.3:c.962A>G (GAS8)	XP_005256361.1:p.Tyr321Cys
XM_005256309.3:c.461A>G (GAS8)	XP_005256366.1:p.Tyr154Cys
XM_006721175.2:c.788A>G (GAS8)	XP_006721238.1:p.Tyr263Cys
XM_011522990.1:c.788A>G (GAS8)	XP_011521292.1:p.Tyr263Cys
XM_011522991.1:c.788A>G (GAS8)	XP_011521293.1:p.Tyr263Cys
XM_011522992.1:c.788A>G (GAS8)	XP_011521294.1:p.Tyr263Cys
XM_005256309.4:c.461A>G (GAS8)	XP_005256366.1:p.Tyr154Cys
XM_006721175.3:c.788A>G (GAS8)	XP_006721238.1:p.Tyr263Cys
XM_011522990.2:c.788A>G (GAS8)	XP_011521292.1:p.Tyr263Cys
XM_011522992.2:c.788A>G (GAS8)	XP_011521294.1:p.Tyr263Cys
XM_017023122.1:c.788A>G (GAS8)	XP_016878611.1:p.Tyr263Cys
XM_017023123.1:c.788A>G (GAS8)	XP_016878612.1:p.Tyr263Cys
XM_017023124.1:c.461A>G (GAS8)	XP_016878613.1:p.Tyr154Cys
XM_017023125.1:c.461A>G (GAS8)	XP_016878614.1:p.Tyr154Cys
XM_024450228.1:c.962A>G (GAS8)	XP_024305996.1:p.Tyr321Cys
NM_001481.3:c.1037A>G (GAS8) MANE Select	NP_001472.1:p.Tyr346Cys
NM_001286205.2:c.788A>G (GAS8)	NP_001273134.1:p.Tyr263Cys
NM_001286208.2:c.461A>G (GAS8)	NP_001273137.1:p.Tyr154Cys
NM_001286209.2:c.962A>G (GAS8)	NP_001273138.1:p.Tyr321Cys