Canonical Allele Identifier: CA2999258531
Community Standard Title: NM_001482.3(GATM):c.813+53T>C
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45366318A>G , CM000677.2:g.45366318A>G GRCh38
NC_000015.9:g.45658516A>G , CM000677.1:g.45658516A>G GRCh37
NC_000015.8:g.43445808A>G NCBI36
NG_011674.1:g.17465T>C
NG_011674.2:g.41000T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.813+53T>C MANE Select NP_001473.1:n.813+53T>C
ENST00000396659.8:c.813+53T>C MANE Select ENSP00000379895.3:n.813+53T>C
NM_001321015.1:c.426+53T>C NP_001307944.1:n.426+53T>C
NM_001321015.2:c.426+53T>C NP_001307944.1:n.426+53T>C
NM_001482.2:c.813+53T>C NP_001473.1:n.813+53T>C
ENST00000396659.7:c.813+53T>C ENSP00000379895.3:n.813+53T>C
ENST00000558336.5:c.813+53T>C ENSP00000454008.1:n.813+53T>C
ENST00000558362.5:n.2469+53T>C
ENST00000558916.1:n.711+53T>C
ENST00000674905.1:c.813+53T>C ENSP00000502176.1:n.813+53T>C
ENST00000675158.1:c.813+53T>C ENSP00000501737.1:n.813+53T>C
ENST00000675323.1:c.813+53T>C ENSP00000502445.1:n.813+53T>C
ENST00000675701.1:c.753+53T>C ENSP00000502671.1:n.753+53T>C
ENST00000675974.1:n.904+53T>C
ENST00000676090.1:c.*1544+53T>C ENSP00000501630.1:n.*1544+53T>C
XM_011521450.1:c.861+53T>C XP_011519752.1:n.861+53T>C
XM_011521451.1:c.855+53T>C XP_011519753.1:n.855+53T>C
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