Canonical Allele Identifier: CA497073618

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88901658C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835250C>G , CM000678.2:g.88835250C>G	GRCh38
NC_000016.9:g.88901658C>G , CM000678.1:g.88901658C>G	GRCh37
NC_000016.8:g.87429159C>G	NCBI36
NG_008667.1:g.26717G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.861G>C MANE Select	ENSP00000268695.5:p.Ser287=
ENST00000268695.9:c.861G>C	ENSP00000268695.5:p.Ser287=
ENST00000562593.5:n.4270G>C
ENST00000562931.5:n.449G>C
ENST00000567525.5:c.542G>C	ENSP00000454484.1:n.542G>C
ENST00000568613.5:c.980G>C	ENSP00000457921.1:n.980G>C
NM_000512.4:c.861G>C	NP_000503.1:p.Ser287=
XM_005256301.2:c.861G>C	XP_005256358.1:p.Ser287=
XM_005256302.1:c.879G>C	XP_005256359.1:p.Ser293=
XM_011522982.1:c.879G>C	XP_011521284.1:p.Ser293=
XM_011522984.1:c.879G>C	XP_011521286.1:p.Ser293=
NM_001323543.1:c.306G>C	NP_001310472.1:p.Ser102=
NM_001323544.1:c.879G>C	NP_001310473.1:p.Ser293=
XM_005256301.3:c.861G>C	XP_005256358.1:p.Ser287=
XM_011522982.2:c.879G>C	XP_011521284.1:p.Ser293=
XM_017023111.2:c.879G>C	XP_016878600.1:p.Ser293=
XM_017023112.2:c.879G>C	XP_016878601.1:p.Ser293=
XM_017023113.1:c.306G>C	XP_016878602.1:p.Ser102=
NM_000512.5:c.861G>C MANE Select	NP_000503.1:p.Ser287=
NM_001323543.2:c.306G>C	NP_001310472.1:p.Ser102=
NM_001323544.2:c.879G>C	NP_001310473.1:p.Ser293=