Canonical Allele Identifier: CA397083191

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88904119C>G (hg19) ; chr16:g.88837711C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837711C>G , CM000678.2:g.88837711C>G	GRCh38
NC_000016.9:g.88904119C>G , CM000678.1:g.88904119C>G	GRCh37
NC_000016.8:g.87431620C>G	NCBI36
NG_008667.1:g.24256G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.477G>C MANE Select	ENSP00000268695.5:p.Trp159Cys
ENST00000268695.9:c.477G>C	ENSP00000268695.5:p.Trp159Cys
ENST00000561812.1:n.433G>C
ENST00000562593.5:n.3886G>C
ENST00000562831.1:c.261G>C	ENSP00000455174.1:p.Trp87Cys
ENST00000562931.5:n.65G>C
ENST00000566563.1:n.179G>C
ENST00000567525.5:c.248-1444G>C	ENSP00000454484.1:n.248-1444G>C
ENST00000568613.5:c.596G>C	ENSP00000457921.1:n.596G>C
NM_000512.4:c.477G>C	NP_000503.1:p.Trp159Cys
XM_005256301.2:c.477G>C	XP_005256358.1:p.Trp159Cys
XM_005256302.1:c.495G>C	XP_005256359.1:p.Trp165Cys
XM_011522982.1:c.495G>C	XP_011521284.1:p.Trp165Cys
XM_011522984.1:c.495G>C	XP_011521286.1:p.Trp165Cys
NM_001323543.1:c.-79G>C	NP_001310472.1:n.-79G>C
NM_001323544.1:c.495G>C	NP_001310473.1:p.Trp165Cys
XM_005256301.3:c.477G>C	XP_005256358.1:p.Trp159Cys
XM_011522982.2:c.495G>C	XP_011521284.1:p.Trp165Cys
XM_017023111.2:c.495G>C	XP_016878600.1:p.Trp165Cys
XM_017023112.2:c.495G>C	XP_016878601.1:p.Trp165Cys
XM_017023113.1:c.-79G>C	XP_016878602.1:n.-79G>C
NM_000512.5:c.477G>C MANE Select	NP_000503.1:p.Trp159Cys
NM_001323543.2:c.-79G>C	NP_001310472.1:n.-79G>C
NM_001323544.2:c.495G>C	NP_001310473.1:p.Trp165Cys