Canonical Allele Identifier: CA2174067237
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393802T= , CM000677.2:g.45393802T= GRCh38
NC_000015.9:g.45686000T= , CM000677.1:g.45686000T= GRCh37
NC_000015.8:g.43473292T= NCBI36
NG_011674.2:g.13516A=

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3120A=
ENST00000527933.2:n.512+2365A=
ENST00000560538.1:n.338+3120A=
ENST00000561148.5:c.-319+3120A= ENSP00000453860.1:n.-319+3120A=
XM_011521450.1:c.31+3120A= XP_011519752.1:n.31+3120A=
NM_001321015.1:c.-395+3120A= NP_001307944.1:n.-395+3120A=
NM_001321015.2:c.-395+3120A= NP_001307944.1:n.-395+3120A=