Canonical Allele Identifier: CA2546428294
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393643G>A , CM000677.2:g.45393643G>A GRCh38
NC_000015.9:g.45685841G>A , CM000677.1:g.45685841G>A GRCh37
NC_000015.8:g.43473133G>A NCBI36
NG_011674.2:g.13675C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000458245.5:n.640+3279C>T
ENST00000527933.2:n.512+2524C>T
ENST00000560538.1:n.338+3279C>T
ENST00000561148.5:c.-319+3279C>T ENSP00000453860.1:n.-319+3279C>T
XM_011521450.1:c.31+3279C>T XP_011519752.1:n.31+3279C>T
NM_001321015.1:c.-395+3279C>T NP_001307944.1:n.-395+3279C>T
NM_001321015.2:c.-395+3279C>T NP_001307944.1:n.-395+3279C>T