Canonical Allele Identifier: CA2803998469

Gene: GATM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393501G>C , CM000677.2:g.45393501G>C	GRCh38
NC_000015.9:g.45685699G>C , CM000677.1:g.45685699G>C	GRCh37
NC_000015.8:g.43472991G>C	NCBI36
NG_011674.2:g.13817C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458245.5:n.640+3421C>G
ENST00000527933.2:n.512+2666C>G
ENST00000560538.1:n.338+3421C>G
ENST00000561148.5:c.-319+3421C>G	ENSP00000453860.1:n.-319+3421C>G
XM_011521450.1:c.31+3421C>G	XP_011519752.1:n.31+3421C>G
NM_001321015.1:c.-395+3421C>G	NP_001307944.1:n.-395+3421C>G
NM_001321015.2:c.-395+3421C>G	NP_001307944.1:n.-395+3421C>G