Canonical Allele Identifier: CA7542745

Gene: GATM

Linked Data

• ClinVar Variation Id: 316209
• ClinVar RCV Id: RCV000355804
• dbSNP Id: rs200143728
• ExAC: 15:45654280 G / C
• gnomAD v2: 15-45654280-G-C
• gnomAD v3: 15-45362082-G-C
• gnomAD v4: 15-45362082-G-C
• MyVariant Identifiers: chr15:g.45654280G>C (hg19) ; chr15:g.45362082G>C (hg38)
• ERepo: CA7542745/MONDO:0012996/025

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45362082G>C , CM000677.2:g.45362082G>C	GRCh38
NC_000015.9:g.45654280G>C , CM000677.1:g.45654280G>C	GRCh37
NC_000015.8:g.43441572G>C	NCBI36
NG_011674.1:g.21701C>G
NG_011674.2:g.45236C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.*27C>G MANE Select	ENSP00000379895.3:n.*27C>G
ENST00000674905.1:c.*261C>G	ENSP00000502176.1:n.*261C>G
ENST00000675158.1:c.*199C>G	ENSP00000501737.1:n.*199C>G
ENST00000675323.1:c.*1801C>G	ENSP00000502445.1:n.*1801C>G
ENST00000675701.1:c.*27C>G	ENSP00000502671.1:n.*27C>G
ENST00000675974.1:n.3848C>G
ENST00000676090.1:c.*2030C>G	ENSP00000501630.1:n.*2030C>G
ENST00000396659.7:c.*27C>G	ENSP00000379895.3:n.*27C>G
ENST00000558362.5:n.2955C>G
NM_001482.2:c.*27C>G	NP_001473.1:n.*27C>G
XM_011521450.1:c.*27C>G	XP_011519752.1:n.*27C>G
XM_011521451.1:c.*27C>G	XP_011519753.1:n.*27C>G
NM_001321015.1:c.*27C>G	NP_001307944.1:n.*27C>G
NM_001482.3:c.*27C>G MANE Select	NP_001473.1:n.*27C>G
NM_001321015.2:c.*27C>G	NP_001307944.1:n.*27C>G