Canonical Allele Identifier: CA713157110
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs1238919754
MyVariant Identifiers: chr15:g.45685751C>A (hg19) chr15:g.45393553C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393553C>A , CM000677.2:g.45393553C>A GRCh38
NC_000015.9:g.45685751C>A , CM000677.1:g.45685751C>A GRCh37
NC_000015.8:g.43473043C>A NCBI36
NG_011674.2:g.13765G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000458245.5:n.640+3369G>T
ENST00000527933.2:n.512+2614G>T
ENST00000560538.1:n.338+3369G>T
ENST00000561148.5:c.-319+3369G>T ENSP00000453860.1:n.-319+3369G>T
XM_011521450.1:c.31+3369G>T XP_011519752.1:n.31+3369G>T
NM_001321015.1:c.-395+3369G>T NP_001307944.1:n.-395+3369G>T
NM_001321015.2:c.-395+3369G>T NP_001307944.1:n.-395+3369G>T
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