Canonical Allele Identifier: CA8235169

Gene: GALNS

Linked Data

• ClinVar Variation Id: 2807450
• ClinVar RCV Id: RCV003598944
• dbSNP Id: rs759142064
• ExAC: 16:88907405 G / C
• gnomAD v2: 16-88907405-G-C
• gnomAD v4: 16-88840997-G-C
• MyVariant Identifiers: chr16:g.88907405G>C (hg19) ; chr16:g.88840997G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88840997G>C , CM000678.2:g.88840997G>C	GRCh38
NC_000016.9:g.88907405G>C , CM000678.1:g.88907405G>C	GRCh37
NC_000016.8:g.87434906G>C	NCBI36
NG_008667.1:g.20970C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.417C>G MANE Select	ENSP00000268695.5:p.Gly139=
ENST00000268695.9:c.417C>G	ENSP00000268695.5:p.Gly139=
ENST00000562593.5:n.3826C>G
ENST00000562831.1:c.201C>G	ENSP00000455174.1:p.Gly67=
ENST00000565364.1:n.552C>G
ENST00000567525.5:c.242C>G	ENSP00000454484.1:n.242C>G
ENST00000567779.1:n.247C>G
ENST00000568613.5:c.536C>G	ENSP00000457921.1:n.536C>G
NM_000512.4:c.417C>G	NP_000503.1:p.Gly139=
XM_005256301.2:c.417C>G	XP_005256358.1:p.Gly139=
XM_005256302.1:c.435C>G	XP_005256359.1:p.Gly145=
XM_011522982.1:c.435C>G	XP_011521284.1:p.Gly145=
XM_011522984.1:c.435C>G	XP_011521286.1:p.Gly145=
NM_001323543.1:c.-139C>G	NP_001310472.1:n.-139C>G
NM_001323544.1:c.435C>G	NP_001310473.1:p.Gly145=
XM_005256301.3:c.417C>G	XP_005256358.1:p.Gly139=
XM_011522982.2:c.435C>G	XP_011521284.1:p.Gly145=
XM_017023111.2:c.435C>G	XP_016878600.1:p.Gly145=
XM_017023112.2:c.435C>G	XP_016878601.1:p.Gly145=
XM_017023113.1:c.-139C>G	XP_016878602.1:n.-139C>G
NM_000512.5:c.417C>G MANE Select	NP_000503.1:p.Gly139=
NM_001323543.2:c.-139C>G	NP_001310472.1:n.-139C>G
NM_001323544.2:c.435C>G	NP_001310473.1:p.Gly145=