Canonical Allele Identifier: CA392254708
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45362144G>A , CM000677.2:g.45362144G>A GRCh38
NC_000015.9:g.45654342G>A , CM000677.1:g.45654342G>A GRCh37
NC_000015.8:g.43441634G>A NCBI36
NG_011674.1:g.21639C>T
NG_011674.2:g.45174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.1237C>T MANE Select ENSP00000379895.3:p.Arg413Trp
ENST00000674905.1:c.*199C>T ENSP00000502176.1:n.*199C>T
ENST00000675158.1:c.*137C>T ENSP00000501737.1:n.*137C>T
ENST00000675323.1:c.*1739C>T ENSP00000502445.1:n.*1739C>T
ENST00000675701.1:c.1177C>T ENSP00000502671.1:p.Arg393Trp
ENST00000675974.1:n.3786C>T
ENST00000676090.1:c.*1968C>T ENSP00000501630.1:n.*1968C>T
ENST00000396659.7:c.1237C>T ENSP00000379895.3:p.Arg413Trp
ENST00000558362.5:n.2893C>T
NM_001482.2:c.1237C>T NP_001473.1:p.Arg413Trp
XM_011521450.1:c.1285C>T XP_011519752.1:p.Arg429Trp
XM_011521451.1:c.1279C>T XP_011519753.1:p.Arg427Trp
NM_001321015.1:c.850C>T NP_001307944.1:p.Arg284Trp
NM_001482.3:c.1237C>T MANE Select NP_001473.1:p.Arg413Trp
NM_001321015.2:c.850C>T NP_001307944.1:p.Arg284Trp
Search 100 bp 5'
Search 100 bp 3'