Canonical Allele Identifier: CA713157209
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs1370924164

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393828C>T , CM000677.2:g.45393828C>T GRCh38
NC_000015.9:g.45686026C>T , CM000677.1:g.45686026C>T GRCh37
NC_000015.8:g.43473318C>T NCBI36
NG_011674.2:g.13490G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3094G>A
ENST00000527933.2:n.512+2339G>A
ENST00000560538.1:n.338+3094G>A
ENST00000561148.5:c.-319+3094G>A ENSP00000453860.1:n.-319+3094G>A
XM_011521450.1:c.31+3094G>A XP_011519752.1:n.31+3094G>A
NM_001321015.1:c.-395+3094G>A NP_001307944.1:n.-395+3094G>A
NM_001321015.2:c.-395+3094G>A NP_001307944.1:n.-395+3094G>A