Canonical Allele Identifier: CA2174067192
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393657A= , CM000677.2:g.45393657A= GRCh38
NC_000015.9:g.45685855A= , CM000677.1:g.45685855A= GRCh37
NC_000015.8:g.43473147A= NCBI36
NG_011674.2:g.13661T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000458245.5:n.640+3265T=
ENST00000527933.2:n.512+2510T=
ENST00000560538.1:n.338+3265T=
ENST00000561148.5:c.-319+3265T= ENSP00000453860.1:n.-319+3265T=
XM_011521450.1:c.31+3265T= XP_011519752.1:n.31+3265T=
NM_001321015.1:c.-395+3265T= NP_001307944.1:n.-395+3265T=
NM_001321015.2:c.-395+3265T= NP_001307944.1:n.-395+3265T=