Canonical Allele Identifier: CA397082896

Gene: GALNS

Linked Data

• gnomAD v4: 16-88837686-C-G
• MyVariant Identifiers: chr16:g.88904094C>G (hg19) ; chr16:g.88837686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837686C>G , CM000678.2:g.88837686C>G	GRCh38
NC_000016.9:g.88904094C>G , CM000678.1:g.88904094C>G	GRCh37
NC_000016.8:g.87431595C>G	NCBI36
NG_008667.1:g.24281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.502G>C MANE Select	ENSP00000268695.5:p.Gly168Arg
ENST00000268695.9:c.502G>C	ENSP00000268695.5:p.Gly168Arg
ENST00000561812.1:n.458G>C
ENST00000562593.5:n.3911G>C
ENST00000562831.1:c.286G>C	ENSP00000455174.1:p.Gly96Arg
ENST00000562931.5:n.90G>C
ENST00000566563.1:n.204G>C
ENST00000567525.5:c.248-1419G>C	ENSP00000454484.1:n.248-1419G>C
ENST00000568613.5:c.621G>C	ENSP00000457921.1:n.621G>C
NM_000512.4:c.502G>C	NP_000503.1:p.Gly168Arg
XM_005256301.2:c.502G>C	XP_005256358.1:p.Gly168Arg
XM_005256302.1:c.520G>C	XP_005256359.1:p.Gly174Arg
XM_011522982.1:c.520G>C	XP_011521284.1:p.Gly174Arg
XM_011522984.1:c.520G>C	XP_011521286.1:p.Gly174Arg
NM_001323543.1:c.-54G>C	NP_001310472.1:n.-54G>C
NM_001323544.1:c.520G>C	NP_001310473.1:p.Gly174Arg
XM_005256301.3:c.502G>C	XP_005256358.1:p.Gly168Arg
XM_011522982.2:c.520G>C	XP_011521284.1:p.Gly174Arg
XM_017023111.2:c.520G>C	XP_016878600.1:p.Gly174Arg
XM_017023112.2:c.520G>C	XP_016878601.1:p.Gly174Arg
XM_017023113.1:c.-54G>C	XP_016878602.1:n.-54G>C
NM_000512.5:c.502G>C MANE Select	NP_000503.1:p.Gly168Arg
NM_001323543.2:c.-54G>C	NP_001310472.1:n.-54G>C
NM_001323544.2:c.520G>C	NP_001310473.1:p.Gly174Arg