Canonical Allele Identifier: CA2174067120

Gene: GATM

Linked Data

• dbSNP Id: rs1889893067

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393478T>C , CM000677.2:g.45393478T>C	GRCh38
NC_000015.9:g.45685676T>C , CM000677.1:g.45685676T>C	GRCh37
NC_000015.8:g.43472968T>C	NCBI36
NG_011674.2:g.13840A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458245.5:n.640+3444A>G
ENST00000527933.2:n.512+2689A>G
ENST00000560538.1:n.338+3444A>G
ENST00000561148.5:c.-319+3444A>G	ENSP00000453860.1:n.-319+3444A>G
XM_011521450.1:c.31+3444A>G	XP_011519752.1:n.31+3444A>G
NM_001321015.1:c.-395+3444A>G	NP_001307944.1:n.-395+3444A>G
NM_001321015.2:c.-395+3444A>G	NP_001307944.1:n.-395+3444A>G