Canonical Allele Identifier: CA397076100

Gene: GALNS

Linked Data

• dbSNP Id: rs1351256518
• gnomAD v2: 16-88901665-A-G
• gnomAD v3: 16-88835257-A-G
• gnomAD v4: 16-88835257-A-G
• MyVariant Identifiers: chr16:g.88901665A>G (hg19) ; chr16:g.88835257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835257A>G , CM000678.2:g.88835257A>G	GRCh38
NC_000016.9:g.88901665A>G , CM000678.1:g.88901665A>G	GRCh37
NC_000016.8:g.87429166A>G	NCBI36
NG_008667.1:g.26710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.854T>C MANE Select	ENSP00000268695.5:p.Phe285Ser
ENST00000268695.9:c.854T>C	ENSP00000268695.5:p.Phe285Ser
ENST00000562593.5:n.4263T>C
ENST00000562931.5:n.442T>C
ENST00000567525.5:c.535T>C	ENSP00000454484.1:n.535T>C
ENST00000568613.5:c.973T>C	ENSP00000457921.1:n.973T>C
NM_000512.4:c.854T>C	NP_000503.1:p.Phe285Ser
XM_005256301.2:c.854T>C	XP_005256358.1:p.Phe285Ser
XM_005256302.1:c.872T>C	XP_005256359.1:p.Phe291Ser
XM_011522982.1:c.872T>C	XP_011521284.1:p.Phe291Ser
XM_011522984.1:c.872T>C	XP_011521286.1:p.Phe291Ser
NM_001323543.1:c.299T>C	NP_001310472.1:p.Phe100Ser
NM_001323544.1:c.872T>C	NP_001310473.1:p.Phe291Ser
XM_005256301.3:c.854T>C	XP_005256358.1:p.Phe285Ser
XM_011522982.2:c.872T>C	XP_011521284.1:p.Phe291Ser
XM_017023111.2:c.872T>C	XP_016878600.1:p.Phe291Ser
XM_017023112.2:c.872T>C	XP_016878601.1:p.Phe291Ser
XM_017023113.1:c.299T>C	XP_016878602.1:p.Phe100Ser
NM_000512.5:c.854T>C MANE Select	NP_000503.1:p.Phe285Ser
NM_001323543.2:c.299T>C	NP_001310472.1:p.Phe100Ser
NM_001323544.2:c.872T>C	NP_001310473.1:p.Phe291Ser