Canonical Allele Identifier: CA291044

Gene: GATM

Linked Data

• ClinVar Variation Id: 137453
• ClinVar RCV Id: RCV000125213 ; RCV001402736 ; RCV002316371 ; RCV002505088
• dbSNP Id: rs587780951
• gnomAD v2: 15-45670604-C-A
• gnomAD v3: 15-45378406-C-A
• gnomAD v4: 15-45378406-C-A
• MyVariant Identifiers: chr15:g.45670604C>A (hg19) ; chr15:g.45378406C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45378406C>A , CM000677.2:g.45378406C>A	GRCh38
NC_000015.9:g.45670604C>A , CM000677.1:g.45670604C>A	GRCh37
NC_000015.8:g.43457896C>A	NCBI36
NG_011674.1:g.5377G>T
NG_011674.2:g.28912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.48G>T MANE Select	ENSP00000379895.3:p.Ala16=
ENST00000674905.1:c.48G>T	ENSP00000502176.1:p.Ala16=
ENST00000675158.1:c.48G>T	ENSP00000501737.1:p.Ala16=
ENST00000675323.1:c.48G>T	ENSP00000502445.1:p.Ala16=
ENST00000675974.1:n.139G>T
ENST00000676090.1:c.207G>T	ENSP00000501630.1:p.Ala69=
ENST00000396659.7:c.48G>T	ENSP00000379895.3:p.Ala16=
ENST00000558118.1:c.48G>T	ENSP00000452971.1:p.Ala16=
ENST00000558163.1:c.48G>T	ENSP00000453781.1:p.Ala16=
ENST00000558336.5:c.48G>T	ENSP00000454008.1:p.Ala16=
ENST00000558362.5:n.139G>T
ENST00000560538.1:n.339-1587G>T
ENST00000561148.5:c.-318-1587G>T	ENSP00000453860.1:n.-318-1587G>T
NM_001482.2:c.48G>T	NP_001473.1:p.Ala16=
XM_011521450.1:c.118-1587G>T	XP_011519752.1:n.118-1587G>T
XM_011521451.1:c.112-1587G>T	XP_011519753.1:n.112-1587G>T
NM_001321015.1:c.-318-1587G>T	NP_001307944.1:n.-318-1587G>T
NM_001482.3:c.48G>T MANE Select	NP_001473.1:p.Ala16=
NM_001321015.2:c.-318-1587G>T	NP_001307944.1:n.-318-1587G>T