Canonical Allele Identifier: CA7542779

Gene: GATM

Linked Data

• ClinVar Variation Id: 380744
• ClinVar RCV Id: RCV000426823 ; RCV002064951 ; RCV002502507
• dbSNP Id: rs187979088
• ExAC: 15:45656079 T / C
• gnomAD v2: 15-45656079-T-C
• gnomAD v3: 15-45363881-T-C
• gnomAD v4: 15-45363881-T-C
• MyVariant Identifiers: chr15:g.45656079T>C (hg19) ; chr15:g.45363881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45363881T>C , CM000677.2:g.45363881T>C	GRCh38
NC_000015.9:g.45656079T>C , CM000677.1:g.45656079T>C	GRCh37
NC_000015.8:g.43443371T>C	NCBI36
NG_011674.1:g.19902A>G
NG_011674.2:g.43437A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.1159+19A>G MANE Select	ENSP00000379895.3:n.1159+19A>G
ENST00000674905.1:c.1159+19A>G	ENSP00000502176.1:n.1159+19A>G
ENST00000675158.1:c.*59+19A>G	ENSP00000501737.1:n.*59+19A>G
ENST00000675323.1:c.*2A>G	ENSP00000502445.1:n.*2A>G
ENST00000675701.1:c.1099+19A>G	ENSP00000502671.1:n.1099+19A>G
ENST00000675974.1:n.2049A>G
ENST00000676090.1:c.*1890+19A>G	ENSP00000501630.1:n.*1890+19A>G
ENST00000396659.7:c.1159+19A>G	ENSP00000379895.3:n.1159+19A>G
ENST00000558336.5:c.*2A>G	ENSP00000454008.1:n.*2A>G
ENST00000558362.5:n.2815+19A>G
NM_001482.2:c.1159+19A>G	NP_001473.1:n.1159+19A>G
XM_011521450.1:c.1207+19A>G	XP_011519752.1:n.1207+19A>G
XM_011521451.1:c.1201+19A>G	XP_011519753.1:n.1201+19A>G
NM_001321015.1:c.772+19A>G	NP_001307944.1:n.772+19A>G
NM_001482.3:c.1159+19A>G MANE Select	NP_001473.1:n.1159+19A>G
NM_001321015.2:c.772+19A>G	NP_001307944.1:n.772+19A>G