Canonical Allele Identifier: CA397094153

Gene: GALNS

Linked Data

• dbSNP Id: rs1909816793
• gnomAD v4: 16-88818026-A-G
• MyVariant Identifiers: chr16:g.88884434A>G (hg19) ; chr16:g.88818026A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818026A>G , CM000678.2:g.88818026A>G	GRCh38
NC_000016.9:g.88884434A>G , CM000678.1:g.88884434A>G	GRCh37
NC_000016.8:g.87411935A>G	NCBI36
NG_008667.1:g.43941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1463T>C MANE Select	ENSP00000268695.5:p.Val488Ala
ENST00000268695.9:c.1463T>C	ENSP00000268695.5:p.Val488Ala
ENST00000562593.5:n.4872T>C
ENST00000567525.5:c.1144T>C	ENSP00000454484.1:n.1144T>C
ENST00000568613.5:c.1582T>C	ENSP00000457921.1:n.1582T>C
NM_000512.4:c.1463T>C	NP_000503.1:p.Val488Ala
XM_005256301.2:c.1463T>C	XP_005256358.1:p.Val488Ala
XM_005256302.1:c.1481T>C	XP_005256359.1:p.Val494Ala
XM_011522982.1:c.1481T>C	XP_011521284.1:p.Val494Ala
XM_011522984.1:c.1481T>C	XP_011521286.1:p.Val494Ala
NM_001323543.1:c.908T>C	NP_001310472.1:p.Val303Ala
NM_001323544.1:c.1481T>C	NP_001310473.1:p.Val494Ala
XM_005256301.3:c.1463T>C	XP_005256358.1:p.Val488Ala
XM_011522982.2:c.1481T>C	XP_011521284.1:p.Val494Ala
XM_017023111.2:c.1481T>C	XP_016878600.1:p.Val494Ala
XM_017023112.2:c.1481T>C	XP_016878601.1:p.Val494Ala
XM_017023113.1:c.908T>C	XP_016878602.1:p.Val303Ala
NM_000512.5:c.1463T>C MANE Select	NP_000503.1:p.Val488Ala
NM_001323543.2:c.908T>C	NP_001310472.1:p.Val303Ala
NM_001323544.2:c.1481T>C	NP_001310473.1:p.Val494Ala