Canonical Allele Identifier: CA270144273

Gene: GATM

Linked Data

• dbSNP Id: rs1042678710
• gnomAD v2: 15-45686089-C-A
• MyVariant Identifiers: chr15:g.45686089C>A (hg19) ; chr15:g.45393891C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393891C>A , CM000677.2:g.45393891C>A	GRCh38
NC_000015.9:g.45686089C>A , CM000677.1:g.45686089C>A	GRCh37
NC_000015.8:g.43473381C>A	NCBI36
NG_011674.2:g.13427G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000458245.5:n.640+3031G>T
ENST00000527933.2:n.512+2276G>T
ENST00000560538.1:n.338+3031G>T
ENST00000561148.5:c.-319+3031G>T	ENSP00000453860.1:n.-319+3031G>T
XM_011521450.1:c.31+3031G>T	XP_011519752.1:n.31+3031G>T
NM_001321015.1:c.-395+3031G>T	NP_001307944.1:n.-395+3031G>T
NM_001321015.2:c.-395+3031G>T	NP_001307944.1:n.-395+3031G>T