Canonical Allele Identifier: CA2803998470
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393509A>G , CM000677.2:g.45393509A>G GRCh38
NC_000015.9:g.45685707A>G , CM000677.1:g.45685707A>G GRCh37
NC_000015.8:g.43472999A>G NCBI36
NG_011674.2:g.13809T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000458245.5:n.640+3413T>C
ENST00000527933.2:n.512+2658T>C
ENST00000560538.1:n.338+3413T>C
ENST00000561148.5:c.-319+3413T>C ENSP00000453860.1:n.-319+3413T>C
XM_011521450.1:c.31+3413T>C XP_011519752.1:n.31+3413T>C
NM_001321015.1:c.-395+3413T>C NP_001307944.1:n.-395+3413T>C
NM_001321015.2:c.-395+3413T>C NP_001307944.1:n.-395+3413T>C