Canonical Allele Identifier: CA2174067118
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs1889893037

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393477C>T , CM000677.2:g.45393477C>T GRCh38
NC_000015.9:g.45685675C>T , CM000677.1:g.45685675C>T GRCh37
NC_000015.8:g.43472967C>T NCBI36
NG_011674.2:g.13841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000458245.5:n.640+3445G>A
ENST00000527933.2:n.512+2690G>A
ENST00000560538.1:n.338+3445G>A
ENST00000561148.5:c.-319+3445G>A ENSP00000453860.1:n.-319+3445G>A
XM_011521450.1:c.31+3445G>A XP_011519752.1:n.31+3445G>A
NM_001321015.1:c.-395+3445G>A NP_001307944.1:n.-395+3445G>A
NM_001321015.2:c.-395+3445G>A NP_001307944.1:n.-395+3445G>A