Canonical Allele Identifier: CA397076066

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88901657C>G (hg19) ; chr16:g.88835249C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835249C>G , CM000678.2:g.88835249C>G	GRCh38
NC_000016.9:g.88901657C>G , CM000678.1:g.88901657C>G	GRCh37
NC_000016.8:g.87429158C>G	NCBI36
NG_008667.1:g.26718G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.862G>C MANE Select	ENSP00000268695.5:p.Asp288His
ENST00000268695.9:c.862G>C	ENSP00000268695.5:p.Asp288His
ENST00000562593.5:n.4271G>C
ENST00000562931.5:n.450G>C
ENST00000567525.5:c.543G>C	ENSP00000454484.1:n.543G>C
ENST00000568613.5:c.981G>C	ENSP00000457921.1:n.981G>C
NM_000512.4:c.862G>C	NP_000503.1:p.Asp288His
XM_005256301.2:c.862G>C	XP_005256358.1:p.Asp288His
XM_005256302.1:c.880G>C	XP_005256359.1:p.Asp294His
XM_011522982.1:c.880G>C	XP_011521284.1:p.Asp294His
XM_011522984.1:c.880G>C	XP_011521286.1:p.Asp294His
NM_001323543.1:c.307G>C	NP_001310472.1:p.Asp103His
NM_001323544.1:c.880G>C	NP_001310473.1:p.Asp294His
XM_005256301.3:c.862G>C	XP_005256358.1:p.Asp288His
XM_011522982.2:c.880G>C	XP_011521284.1:p.Asp294His
XM_017023111.2:c.880G>C	XP_016878600.1:p.Asp294His
XM_017023112.2:c.880G>C	XP_016878601.1:p.Asp294His
XM_017023113.1:c.307G>C	XP_016878602.1:p.Asp103His
NM_000512.5:c.862G>C MANE Select	NP_000503.1:p.Asp288His
NM_001323543.2:c.307G>C	NP_001310472.1:p.Asp103His
NM_001323544.2:c.880G>C	NP_001310473.1:p.Asp294His