Canonical Allele Identifier: CA397076128

Gene: GALNS

Linked Data

• ClinVar Variation Id: 2156006
• ClinVar RCV Id: RCV003075237
• gnomAD v3: 16-88835263-A-G
• gnomAD v4: 16-88835263-A-G
• MyVariant Identifiers: chr16:g.88901671A>G (hg19) ; chr16:g.88835263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835263A>G , CM000678.2:g.88835263A>G	GRCh38
NC_000016.9:g.88901671A>G , CM000678.1:g.88901671A>G	GRCh37
NC_000016.8:g.87429172A>G	NCBI36
NG_008667.1:g.26704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.848T>C MANE Select	ENSP00000268695.5:p.Val283Ala
ENST00000268695.9:c.848T>C	ENSP00000268695.5:p.Val283Ala
ENST00000562593.5:n.4257T>C
ENST00000562931.5:n.436T>C
ENST00000567525.5:c.529T>C	ENSP00000454484.1:n.529T>C
ENST00000568613.5:c.967T>C	ENSP00000457921.1:n.967T>C
NM_000512.4:c.848T>C	NP_000503.1:p.Val283Ala
XM_005256301.2:c.848T>C	XP_005256358.1:p.Val283Ala
XM_005256302.1:c.866T>C	XP_005256359.1:p.Val289Ala
XM_011522982.1:c.866T>C	XP_011521284.1:p.Val289Ala
XM_011522984.1:c.866T>C	XP_011521286.1:p.Val289Ala
NM_001323543.1:c.293T>C	NP_001310472.1:p.Val98Ala
NM_001323544.1:c.866T>C	NP_001310473.1:p.Val289Ala
XM_005256301.3:c.848T>C	XP_005256358.1:p.Val283Ala
XM_011522982.2:c.866T>C	XP_011521284.1:p.Val289Ala
XM_017023111.2:c.866T>C	XP_016878600.1:p.Val289Ala
XM_017023112.2:c.866T>C	XP_016878601.1:p.Val289Ala
XM_017023113.1:c.293T>C	XP_016878602.1:p.Val98Ala
NM_000512.5:c.848T>C MANE Select	NP_000503.1:p.Val283Ala
NM_001323543.2:c.293T>C	NP_001310472.1:p.Val98Ala
NM_001323544.2:c.866T>C	NP_001310473.1:p.Val289Ala