Canonical Allele Identifier: CA497080188

Gene: GALNS

Linked Data

• gnomAD v4: 16-88841970-C-G
• MyVariant Identifiers: chr16:g.88908378C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841970C>G , CM000678.2:g.88841970C>G	GRCh38
NC_000016.9:g.88908378C>G , CM000678.1:g.88908378C>G	GRCh37
NC_000016.8:g.87435879C>G	NCBI36
NG_008667.1:g.19997G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.246G>C MANE Select	ENSP00000268695.5:p.Ser82=
ENST00000268695.9:c.246G>C	ENSP00000268695.5:p.Ser82=
ENST00000562593.5:n.3655G>C
ENST00000562831.1:c.30G>C	ENSP00000455174.1:p.Ala10=
ENST00000565364.1:n.381G>C
ENST00000567525.5:c.71G>C	ENSP00000454484.1:p.Arg24Pro
ENST00000567779.1:n.76G>C
ENST00000568613.5:c.365G>C	ENSP00000457921.1:n.365G>C
NM_000512.4:c.246G>C	NP_000503.1:p.Ser82=
XM_005256301.2:c.246G>C	XP_005256358.1:p.Ser82=
XM_005256302.1:c.264G>C	XP_005256359.1:p.Ser88=
XM_011522982.1:c.264G>C	XP_011521284.1:p.Ser88=
XM_011522984.1:c.264G>C	XP_011521286.1:p.Ser88=
NM_001323543.1:c.-310G>C	NP_001310472.1:n.-310G>C
NM_001323544.1:c.264G>C	NP_001310473.1:p.Ser88=
XM_005256301.3:c.246G>C	XP_005256358.1:p.Ser82=
XM_011522982.2:c.264G>C	XP_011521284.1:p.Ser88=
XM_017023111.2:c.264G>C	XP_016878600.1:p.Ser88=
XM_017023112.2:c.264G>C	XP_016878601.1:p.Ser88=
XM_017023113.1:c.-310G>C	XP_016878602.1:n.-310G>C
NM_000512.5:c.246G>C MANE Select	NP_000503.1:p.Ser82=
NM_001323543.2:c.-310G>C	NP_001310472.1:n.-310G>C
NM_001323544.2:c.264G>C	NP_001310473.1:p.Ser88=