Canonical Allele Identifier: CA152946

Gene: GATM

Linked Data

• ClinVar Variation Id: 129137
• ClinVar RCV Id: RCV000117124 ; RCV000395145 ; RCV000711746 ; RCV001701505 ; RCV002312114
• dbSNP Id: rs1145086
• ExAC: 15:45654327 A / G
• gnomAD v2: 15-45654327-A-G
• gnomAD v3: 15-45362129-A-G
• gnomAD v4: 15-45362129-A-G
• MyVariant Identifiers: chr15:g.45654327A>G (hg19) ; chr15:g.45362129A>G (hg38)
• ERepo: CA152946/MONDO:0012996/025

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45362129A>G , CM000677.2:g.45362129A>G	GRCh38
NC_000015.9:g.45654327A>G , CM000677.1:g.45654327A>G	GRCh37
NC_000015.8:g.43441619A>G	NCBI36
NG_011674.1:g.21654T>C
NG_011674.2:g.45189T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.1252T>C MANE Select	ENSP00000379895.3:p.Leu418=
ENST00000674905.1:c.*214T>C	ENSP00000502176.1:n.*214T>C
ENST00000675158.1:c.*152T>C	ENSP00000501737.1:n.*152T>C
ENST00000675323.1:c.*1754T>C	ENSP00000502445.1:n.*1754T>C
ENST00000675701.1:c.1192T>C	ENSP00000502671.1:p.Leu398=
ENST00000675974.1:n.3801T>C
ENST00000676090.1:c.*1983T>C	ENSP00000501630.1:n.*1983T>C
ENST00000396659.7:c.1252T>C	ENSP00000379895.3:p.Leu418=
ENST00000558362.5:n.2908T>C
NM_001482.2:c.1252T>C	NP_001473.1:p.Leu418=
XM_011521450.1:c.1300T>C	XP_011519752.1:p.Leu434=
XM_011521451.1:c.1294T>C	XP_011519753.1:p.Leu432=
NM_001321015.1:c.865T>C	NP_001307944.1:p.Leu289=
NM_001482.3:c.1252T>C MANE Select	NP_001473.1:p.Leu418=
NM_001321015.2:c.865T>C	NP_001307944.1:p.Leu289=