Canonical Allele Identifier: CA397087517
Gene: GALNS HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88907401A>G (hg19) chr16:g.88840993A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88840993A>G , CM000678.2:g.88840993A>G GRCh38
NC_000016.9:g.88907401A>G , CM000678.1:g.88907401A>G GRCh37
NC_000016.8:g.87434902A>G NCBI36
NG_008667.1:g.20974T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000268695.10:c.421T>C MANE Select ENSP00000268695.5:p.Trp141Arg
ENST00000268695.9:c.421T>C ENSP00000268695.5:p.Trp141Arg
ENST00000562593.5:n.3830T>C
ENST00000562831.1:c.205T>C ENSP00000455174.1:p.Trp69Arg
ENST00000565364.1:n.556T>C
ENST00000567525.5:c.246T>C ENSP00000454484.1:n.246T>C
ENST00000567779.1:n.251T>C
ENST00000568613.5:c.540T>C ENSP00000457921.1:n.540T>C
NM_000512.4:c.421T>C NP_000503.1:p.Trp141Arg
XM_005256301.2:c.421T>C XP_005256358.1:p.Trp141Arg
XM_005256302.1:c.439T>C XP_005256359.1:p.Trp147Arg
XM_011522982.1:c.439T>C XP_011521284.1:p.Trp147Arg
XM_011522984.1:c.439T>C XP_011521286.1:p.Trp147Arg
NM_001323543.1:c.-135T>C NP_001310472.1:n.-135T>C
NM_001323544.1:c.439T>C NP_001310473.1:p.Trp147Arg
XM_005256301.3:c.421T>C XP_005256358.1:p.Trp141Arg
XM_011522982.2:c.439T>C XP_011521284.1:p.Trp147Arg
XM_017023111.2:c.439T>C XP_016878600.1:p.Trp147Arg
XM_017023112.2:c.439T>C XP_016878601.1:p.Trp147Arg
XM_017023113.1:c.-135T>C XP_016878602.1:n.-135T>C
NM_000512.5:c.421T>C MANE Select NP_000503.1:p.Trp141Arg
NM_001323543.2:c.-135T>C NP_001310472.1:n.-135T>C
NM_001323544.2:c.439T>C NP_001310473.1:p.Trp147Arg
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