Canonical Allele Identifier: CA8234777

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824790T>G , CM000678.2:g.88824790T>G	GRCh38
NC_000016.9:g.88891198T>G , CM000678.1:g.88891198T>G	GRCh37
NC_000016.8:g.87418699T>G	NCBI36
NG_008667.1:g.37177A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1219A>C MANE Select	NP_000503.1:p.Asn407His
ENST00000268695.10:c.1219A>C MANE Select	ENSP00000268695.5:p.Asn407His
NM_000512.4:c.1219A>C	NP_000503.1:p.Asn407His
NM_001323543.1:c.664A>C	NP_001310472.1:p.Asn222His
NM_001323543.2:c.664A>C	NP_001310472.1:p.Asn222His
NM_001323544.1:c.1237A>C	NP_001310473.1:p.Asn413His
NM_001323544.2:c.1237A>C	NP_001310473.1:p.Asn413His
ENST00000268695.9:c.1219A>C	ENSP00000268695.5:p.Asn407His
ENST00000562593.5:n.4628A>C
ENST00000564263.1:n.495A>C
ENST00000567525.5:c.900A>C	ENSP00000454484.1:n.900A>C
ENST00000568613.5:c.1338A>C	ENSP00000457921.1:n.1338A>C
XM_005256301.2:c.1219A>C	XP_005256358.1:p.Asn407His
XM_005256301.3:c.1219A>C	XP_005256358.1:p.Asn407His
XM_005256302.1:c.1237A>C	XP_005256359.1:p.Asn413His
XM_011522982.1:c.1237A>C	XP_011521284.1:p.Asn413His
XM_011522982.2:c.1237A>C	XP_011521284.1:p.Asn413His
XM_011522984.1:c.1237A>C	XP_011521286.1:p.Asn413His
XM_017023111.2:c.1237A>C	XP_016878600.1:p.Asn413His
XM_017023112.2:c.1237A>C	XP_016878601.1:p.Asn413His
XM_017023113.1:c.664A>C	XP_016878602.1:p.Asn222His