Canonical Allele Identifier: CA397076306
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1048420
dbSNP Id: rs2143001162

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835287A>G , CM000678.2:g.88835287A>G GRCh38
NC_000016.9:g.88901695A>G , CM000678.1:g.88901695A>G GRCh37
NC_000016.8:g.87429196A>G NCBI36
NG_008667.1:g.26680T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.824T>C MANE Select ENSP00000268695.5:p.Leu275Pro
ENST00000268695.9:c.824T>C ENSP00000268695.5:p.Leu275Pro
ENST00000562593.5:n.4233T>C
ENST00000562931.5:n.412T>C
ENST00000567525.5:c.505T>C ENSP00000454484.1:n.505T>C
ENST00000568613.5:c.943T>C ENSP00000457921.1:n.943T>C
NM_000512.4:c.824T>C NP_000503.1:p.Leu275Pro
XM_005256301.2:c.824T>C XP_005256358.1:p.Leu275Pro
XM_005256302.1:c.842T>C XP_005256359.1:p.Leu281Pro
XM_011522982.1:c.842T>C XP_011521284.1:p.Leu281Pro
XM_011522984.1:c.842T>C XP_011521286.1:p.Leu281Pro
NM_001323543.1:c.269T>C NP_001310472.1:p.Leu90Pro
NM_001323544.1:c.842T>C NP_001310473.1:p.Leu281Pro
XM_005256301.3:c.824T>C XP_005256358.1:p.Leu275Pro
XM_011522982.2:c.842T>C XP_011521284.1:p.Leu281Pro
XM_017023111.2:c.842T>C XP_016878600.1:p.Leu281Pro
XM_017023112.2:c.842T>C XP_016878601.1:p.Leu281Pro
XM_017023113.1:c.269T>C XP_016878602.1:p.Leu90Pro
NM_000512.5:c.824T>C MANE Select NP_000503.1:p.Leu275Pro
NM_001323543.2:c.269T>C NP_001310472.1:p.Leu90Pro
NM_001323544.2:c.842T>C NP_001310473.1:p.Leu281Pro