Canonical Allele Identifier: CA397087639

Gene: GALNS

Linked Data

• gnomAD v4: 16-88841004-A-G
• MyVariant Identifiers: chr16:g.88907412A>G (hg19) ; chr16:g.88841004A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841004A>G , CM000678.2:g.88841004A>G	GRCh38
NC_000016.9:g.88907412A>G , CM000678.1:g.88907412A>G	GRCh37
NC_000016.8:g.87434913A>G	NCBI36
NG_008667.1:g.20963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.410T>C MANE Select	ENSP00000268695.5:p.Ile137Thr
ENST00000268695.9:c.410T>C	ENSP00000268695.5:p.Ile137Thr
ENST00000562593.5:n.3819T>C
ENST00000562831.1:c.194T>C	ENSP00000455174.1:p.Ile65Thr
ENST00000565364.1:n.545T>C
ENST00000567525.5:c.235T>C	ENSP00000454484.1:n.235T>C
ENST00000567779.1:n.240T>C
ENST00000568613.5:c.529T>C	ENSP00000457921.1:n.529T>C
NM_000512.4:c.410T>C	NP_000503.1:p.Ile137Thr
XM_005256301.2:c.410T>C	XP_005256358.1:p.Ile137Thr
XM_005256302.1:c.428T>C	XP_005256359.1:p.Ile143Thr
XM_011522982.1:c.428T>C	XP_011521284.1:p.Ile143Thr
XM_011522984.1:c.428T>C	XP_011521286.1:p.Ile143Thr
NM_001323543.1:c.-146T>C	NP_001310472.1:n.-146T>C
NM_001323544.1:c.428T>C	NP_001310473.1:p.Ile143Thr
XM_005256301.3:c.410T>C	XP_005256358.1:p.Ile137Thr
XM_011522982.2:c.428T>C	XP_011521284.1:p.Ile143Thr
XM_017023111.2:c.428T>C	XP_016878600.1:p.Ile143Thr
XM_017023112.2:c.428T>C	XP_016878601.1:p.Ile143Thr
XM_017023113.1:c.-146T>C	XP_016878602.1:n.-146T>C
NM_000512.5:c.410T>C MANE Select	NP_000503.1:p.Ile137Thr
NM_001323543.2:c.-146T>C	NP_001310472.1:n.-146T>C
NM_001323544.2:c.428T>C	NP_001310473.1:p.Ile143Thr