Canonical Allele Identifier: CA2174067161
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393577G= , CM000677.2:g.45393577G= GRCh38
NC_000015.9:g.45685775G= , CM000677.1:g.45685775G= GRCh37
NC_000015.8:g.43473067G= NCBI36
NG_011674.2:g.13741C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000458245.5:n.640+3345C=
ENST00000527933.2:n.512+2590C=
ENST00000560538.1:n.338+3345C=
ENST00000561148.5:c.-319+3345C= ENSP00000453860.1:n.-319+3345C=
XM_011521450.1:c.31+3345C= XP_011519752.1:n.31+3345C=
NM_001321015.1:c.-395+3345C= NP_001307944.1:n.-395+3345C=
NM_001321015.2:c.-395+3345C= NP_001307944.1:n.-395+3345C=
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