Canonical Allele Identifier: CA291039
Community Standard Title: NM_001482.3(GATM):c.1041C>T (p.Asp347=)
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45364798G>A , CM000677.2:g.45364798G>A GRCh38
NC_000015.9:g.45656996G>A , CM000677.1:g.45656996G>A GRCh37
NC_000015.8:g.43444288G>A NCBI36
NG_011674.1:g.18985C>T
NG_011674.2:g.42520C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.1041C>T MANE Select NP_001473.1:p.Asp347=
ENST00000396659.8:c.1041C>T MANE Select ENSP00000379895.3:p.Asp347=
NM_001321015.1:c.654C>T NP_001307944.1:p.Asp218=
NM_001321015.2:c.654C>T NP_001307944.1:p.Asp218=
NM_001482.2:c.1041C>T NP_001473.1:p.Asp347=
ENST00000396659.7:c.1041C>T ENSP00000379895.3:p.Asp347=
ENST00000558336.5:c.1041C>T ENSP00000454008.1:p.Asp347=
ENST00000558362.5:n.2697C>T
ENST00000561376.1:n.88C>T
ENST00000674905.1:c.1041C>T ENSP00000502176.1:p.Asp347=
ENST00000675158.1:c.1041C>T ENSP00000501737.1:p.Asp347=
ENST00000675323.1:c.1041C>T ENSP00000502445.1:p.Asp347=
ENST00000675701.1:c.981C>T ENSP00000502671.1:p.Asp327=
ENST00000675974.1:n.1132C>T
ENST00000676090.1:c.*1772C>T ENSP00000501630.1:n.*1772C>T
XM_011521450.1:c.1089C>T XP_011519752.1:p.Asp363=
XM_011521451.1:c.1083C>T XP_011519753.1:p.Asp361=