Canonical Allele Identifier: CA392256442
Community Standard Title: NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45364817G>A , CM000677.2:g.45364817G>A GRCh38
NC_000015.9:g.45657015G>A , CM000677.1:g.45657015G>A GRCh37
NC_000015.8:g.43444307G>A NCBI36
NG_011674.1:g.18966C>T
NG_011674.2:g.42501C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.1022C>T MANE Select NP_001473.1:p.Pro341Leu
ENST00000396659.8:c.1022C>T MANE Select ENSP00000379895.3:p.Pro341Leu
NM_001321015.1:c.635C>T NP_001307944.1:p.Pro212Leu
NM_001321015.2:c.635C>T NP_001307944.1:p.Pro212Leu
NM_001482.2:c.1022C>T NP_001473.1:p.Pro341Leu
ENST00000396659.7:c.1022C>T ENSP00000379895.3:p.Pro341Leu
ENST00000558336.5:c.1022C>T ENSP00000454008.1:p.Pro341Leu
ENST00000558362.5:n.2678C>T
ENST00000561376.1:n.69C>T
ENST00000674905.1:c.1022C>T ENSP00000502176.1:p.Pro341Leu
ENST00000675158.1:c.1022C>T ENSP00000501737.1:p.Pro341Leu
ENST00000675323.1:c.1022C>T ENSP00000502445.1:p.Pro341Leu
ENST00000675701.1:c.962C>T ENSP00000502671.1:p.Pro321Leu
ENST00000675974.1:n.1113C>T
ENST00000676090.1:c.*1753C>T ENSP00000501630.1:n.*1753C>T
XM_011521450.1:c.1070C>T XP_011519752.1:p.Pro357Leu
XM_011521451.1:c.1064C>T XP_011519753.1:p.Pro355Leu
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