Canonical Allele Identifier: CA270174380

Gene: GATM

Linked Data

• ClinVar Variation Id: 536985
• ClinVar RCV Id: RCV000645722
• dbSNP Id: rs892312757
• gnomAD v4: 15-45378412-G-C
• MyVariant Identifiers: chr15:g.45670610G>C (hg19) ; chr15:g.45378412G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45378412G>C , CM000677.2:g.45378412G>C	GRCh38
NC_000015.9:g.45670610G>C , CM000677.1:g.45670610G>C	GRCh37
NC_000015.8:g.43457902G>C	NCBI36
NG_011674.1:g.5371C>G
NG_011674.2:g.28906C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.42C>G MANE Select	ENSP00000379895.3:p.Ala14=
ENST00000674905.1:c.42C>G	ENSP00000502176.1:p.Ala14=
ENST00000675158.1:c.42C>G	ENSP00000501737.1:p.Ala14=
ENST00000675323.1:c.42C>G	ENSP00000502445.1:p.Ala14=
ENST00000675974.1:n.133C>G
ENST00000676090.1:c.201C>G	ENSP00000501630.1:p.Ala67=
ENST00000396659.7:c.42C>G	ENSP00000379895.3:p.Ala14=
ENST00000558118.1:c.42C>G	ENSP00000452971.1:p.Ala14=
ENST00000558163.1:c.42C>G	ENSP00000453781.1:p.Ala14=
ENST00000558336.5:c.42C>G	ENSP00000454008.1:p.Ala14=
ENST00000558362.5:n.133C>G
ENST00000560538.1:n.339-1593C>G
ENST00000561148.5:c.-318-1593C>G	ENSP00000453860.1:n.-318-1593C>G
NM_001482.2:c.42C>G	NP_001473.1:p.Ala14=
XM_011521450.1:c.118-1593C>G	XP_011519752.1:n.118-1593C>G
XM_011521451.1:c.112-1593C>G	XP_011519753.1:n.112-1593C>G
NM_001321015.1:c.-318-1593C>G	NP_001307944.1:n.-318-1593C>G
NM_001482.3:c.42C>G MANE Select	NP_001473.1:p.Ala14=
NM_001321015.2:c.-318-1593C>G	NP_001307944.1:n.-318-1593C>G