Canonical Allele Identifier: CA397076108

Gene: GALNS

Linked Data

• dbSNP Id: rs1911995946
• gnomAD v4: 16-88835258-A-G
• MyVariant Identifiers: chr16:g.88901666A>G (hg19) ; chr16:g.88835258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835258A>G , CM000678.2:g.88835258A>G	GRCh38
NC_000016.9:g.88901666A>G , CM000678.1:g.88901666A>G	GRCh37
NC_000016.8:g.87429167A>G	NCBI36
NG_008667.1:g.26709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.853T>C MANE Select	ENSP00000268695.5:p.Phe285Leu
ENST00000268695.9:c.853T>C	ENSP00000268695.5:p.Phe285Leu
ENST00000562593.5:n.4262T>C
ENST00000562931.5:n.441T>C
ENST00000567525.5:c.534T>C	ENSP00000454484.1:n.534T>C
ENST00000568613.5:c.972T>C	ENSP00000457921.1:n.972T>C
NM_000512.4:c.853T>C	NP_000503.1:p.Phe285Leu
XM_005256301.2:c.853T>C	XP_005256358.1:p.Phe285Leu
XM_005256302.1:c.871T>C	XP_005256359.1:p.Phe291Leu
XM_011522982.1:c.871T>C	XP_011521284.1:p.Phe291Leu
XM_011522984.1:c.871T>C	XP_011521286.1:p.Phe291Leu
NM_001323543.1:c.298T>C	NP_001310472.1:p.Phe100Leu
NM_001323544.1:c.871T>C	NP_001310473.1:p.Phe291Leu
XM_005256301.3:c.853T>C	XP_005256358.1:p.Phe285Leu
XM_011522982.2:c.871T>C	XP_011521284.1:p.Phe291Leu
XM_017023111.2:c.871T>C	XP_016878600.1:p.Phe291Leu
XM_017023112.2:c.871T>C	XP_016878601.1:p.Phe291Leu
XM_017023113.1:c.298T>C	XP_016878602.1:p.Phe100Leu
NM_000512.5:c.853T>C MANE Select	NP_000503.1:p.Phe285Leu
NM_001323543.2:c.298T>C	NP_001310472.1:p.Phe100Leu
NM_001323544.2:c.871T>C	NP_001310473.1:p.Phe291Leu