Canonical Allele Identifier: CA2628268146
Community Standard Title: NM_001482.3(GATM):c.979-10G>A
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45364870C>T , CM000677.2:g.45364870C>T GRCh38
NC_000015.9:g.45657068C>T , CM000677.1:g.45657068C>T GRCh37
NC_000015.8:g.43444360C>T NCBI36
NG_011674.1:g.18913G>A
NG_011674.2:g.42448G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.979-10G>A MANE Select NP_001473.1:n.979-10G>A
ENST00000396659.8:c.979-10G>A MANE Select ENSP00000379895.3:n.979-10G>A
NM_001321015.1:c.592-10G>A NP_001307944.1:n.592-10G>A
NM_001321015.2:c.592-10G>A NP_001307944.1:n.592-10G>A
NM_001482.2:c.979-10G>A NP_001473.1:n.979-10G>A
ENST00000396659.7:c.979-10G>A ENSP00000379895.3:n.979-10G>A
ENST00000558336.5:c.979-10G>A ENSP00000454008.1:n.979-10G>A
ENST00000558362.5:n.2635-10G>A
ENST00000558916.1:n.877-10G>A
ENST00000561376.1:n.26-10G>A
ENST00000674905.1:c.979-10G>A ENSP00000502176.1:n.979-10G>A
ENST00000675158.1:c.979-10G>A ENSP00000501737.1:n.979-10G>A
ENST00000675323.1:c.979-10G>A ENSP00000502445.1:n.979-10G>A
ENST00000675701.1:c.919-10G>A ENSP00000502671.1:n.919-10G>A
ENST00000675974.1:n.1070-10G>A
ENST00000676090.1:c.*1710-10G>A ENSP00000501630.1:n.*1710-10G>A
XM_011521450.1:c.1027-10G>A XP_011519752.1:n.1027-10G>A
XM_011521451.1:c.1021-10G>A XP_011519753.1:n.1021-10G>A
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