Canonical Allele Identifier: CA713157115
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs1210631490
gnomAD v3: 15-45393577-G-T
gnomAD v4: 15-45393577-G-T
MyVariant Identifiers: chr15:g.45685775G>T (hg19) chr15:g.45393577G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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