Canonical Allele Identifier: CA392254551
Gene: GATM HGNC NCBI

Linked Data

ClinVar Variation Id: 589915
ClinVar RCV Id: RCV002305534 RCV002317623
dbSNP Id: rs1566838768
MyVariant Identifiers: chr15:g.45654310G>C (hg19) chr15:g.45362112G>C (hg38)
ERepo: CA392254551/MONDO:0012996/025
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45362112G>C , CM000677.2:g.45362112G>C GRCh38
NC_000015.9:g.45654310G>C , CM000677.1:g.45654310G>C GRCh37
NC_000015.8:g.43441602G>C NCBI36
NG_011674.1:g.21671C>G
NG_011674.2:g.45206C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.1269C>G MANE Select ENSP00000379895.3:p.Asp423Glu
ENST00000674905.1:c.*231C>G ENSP00000502176.1:n.*231C>G
ENST00000675158.1:c.*169C>G ENSP00000501737.1:n.*169C>G
ENST00000675323.1:c.*1771C>G ENSP00000502445.1:n.*1771C>G
ENST00000675701.1:c.1209C>G ENSP00000502671.1:p.Asp403Glu
ENST00000675974.1:n.3818C>G
ENST00000676090.1:c.*2000C>G ENSP00000501630.1:n.*2000C>G
ENST00000396659.7:c.1269C>G ENSP00000379895.3:p.Asp423Glu
ENST00000558362.5:n.2925C>G
NM_001482.2:c.1269C>G NP_001473.1:p.Asp423Glu
XM_011521450.1:c.1317C>G XP_011519752.1:p.Asp439Glu
XM_011521451.1:c.1311C>G XP_011519753.1:p.Asp437Glu
NM_001321015.1:c.882C>G NP_001307944.1:p.Asp294Glu
NM_001482.3:c.1269C>G MANE Select NP_001473.1:p.Asp423Glu
NM_001321015.2:c.882C>G NP_001307944.1:p.Asp294Glu
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