Canonical Allele Identifier: CA10642026
Gene: GATM HGNC NCBI

Linked Data

ClinVar Variation Id: 316208
ClinVar RCV Id: RCV000301010
dbSNP Id: rs886051201
gnomAD v4: 15-45362005-T-C
MyVariant Identifiers: chr15:g.45654203T>C (hg19) chr15:g.45362005T>C (hg38)
ERepo: CA10642026/MONDO:0012996/025
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45362005T>C , CM000677.2:g.45362005T>C GRCh38
NC_000015.9:g.45654203T>C , CM000677.1:g.45654203T>C GRCh37
NC_000015.8:g.43441495T>C NCBI36
NG_011674.1:g.21778A>G
NG_011674.2:g.45313A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.*104A>G MANE Select ENSP00000379895.3:n.*104A>G
ENST00000674905.1:c.*338A>G ENSP00000502176.1:n.*338A>G
ENST00000675158.1:c.*276A>G ENSP00000501737.1:n.*276A>G
ENST00000675323.1:c.*1878A>G ENSP00000502445.1:n.*1878A>G
ENST00000675701.1:c.*104A>G ENSP00000502671.1:n.*104A>G
ENST00000675974.1:n.3925A>G
ENST00000676090.1:c.*2107A>G ENSP00000501630.1:n.*2107A>G
ENST00000396659.7:c.*104A>G ENSP00000379895.3:n.*104A>G
ENST00000558362.5:n.3032A>G
NM_001482.2:c.*104A>G NP_001473.1:n.*104A>G
XM_011521450.1:c.*104A>G XP_011519752.1:n.*104A>G
XM_011521451.1:c.*104A>G XP_011519753.1:n.*104A>G
NM_001321015.1:c.*104A>G NP_001307944.1:n.*104A>G
NM_001482.3:c.*104A>G MANE Select NP_001473.1:n.*104A>G
NM_001321015.2:c.*104A>G NP_001307944.1:n.*104A>G
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