Canonical Allele Identifier: CA291043

Gene: GATM

Linked Data

• ClinVar Variation Id: 137452
• ClinVar RCV Id: RCV000125212 ; RCV000327654
• dbSNP Id: rs8024550
• ExAC: 15:45670681 A / C
• gnomAD v2: 15-45670681-A-C
• gnomAD v3: 15-45378483-A-C
• gnomAD v4: 15-45378483-A-C
• MyVariant Identifiers: chr15:g.45670681A>C (hg19) ; chr15:g.45378483A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45378483A>C , CM000677.2:g.45378483A>C	GRCh38
NC_000015.9:g.45670681A>C , CM000677.1:g.45670681A>C	GRCh37
NC_000015.8:g.43457973A>C	NCBI36
NG_011674.1:g.5300T>G
NG_011674.2:g.28835T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.-30T>G MANE Select	ENSP00000379895.3:n.-30T>G
ENST00000674905.1:c.-30T>G	ENSP00000502176.1:n.-30T>G
ENST00000675158.1:c.-30T>G	ENSP00000501737.1:n.-30T>G
ENST00000675323.1:c.-30T>G	ENSP00000502445.1:n.-30T>G
ENST00000675974.1:n.62T>G
ENST00000676090.1:c.130T>G	ENSP00000501630.1:p.Phe44Val
ENST00000396659.7:c.-30T>G	ENSP00000379895.3:n.-30T>G
ENST00000558118.1:c.-30T>G	ENSP00000452971.1:n.-30T>G
ENST00000558163.1:c.-30T>G	ENSP00000453781.1:n.-30T>G
ENST00000558336.5:c.-30T>G	ENSP00000454008.1:n.-30T>G
ENST00000558362.5:n.62T>G
ENST00000560538.1:n.339-1664T>G
ENST00000561148.5:c.-318-1664T>G	ENSP00000453860.1:n.-318-1664T>G
NM_001482.2:c.-30T>G	NP_001473.1:n.-30T>G
XM_011521450.1:c.118-1664T>G	XP_011519752.1:n.118-1664T>G
XM_011521451.1:c.112-1664T>G	XP_011519753.1:n.112-1664T>G
NM_001321015.1:c.-318-1664T>G	NP_001307944.1:n.-318-1664T>G
NM_001482.3:c.-30T>G MANE Select	NP_001473.1:n.-30T>G
NM_001321015.2:c.-318-1664T>G	NP_001307944.1:n.-318-1664T>G