Canonical Allele Identifier: CA2174067261
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs1889898159

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393881G>A , CM000677.2:g.45393881G>A GRCh38
NC_000015.9:g.45686079G>A , CM000677.1:g.45686079G>A GRCh37
NC_000015.8:g.43473371G>A NCBI36
NG_011674.2:g.13437C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3041C>T
ENST00000527933.2:n.512+2286C>T
ENST00000560538.1:n.338+3041C>T
ENST00000561148.5:c.-319+3041C>T ENSP00000453860.1:n.-319+3041C>T
XM_011521450.1:c.31+3041C>T XP_011519752.1:n.31+3041C>T
NM_001321015.1:c.-395+3041C>T NP_001307944.1:n.-395+3041C>T
NM_001321015.2:c.-395+3041C>T NP_001307944.1:n.-395+3041C>T