Canonical Allele Identifier: CA713157228
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs1452448992
gnomAD v3: 15-45393872-C-G
gnomAD v4: 15-45393872-C-G
MyVariant Identifiers: chr15:g.45686070C>G (hg19) chr15:g.45393872C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393872C>G , CM000677.2:g.45393872C>G GRCh38
NC_000015.9:g.45686070C>G , CM000677.1:g.45686070C>G GRCh37
NC_000015.8:g.43473362C>G NCBI36
NG_011674.2:g.13446G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3050G>C
ENST00000527933.2:n.512+2295G>C
ENST00000560538.1:n.338+3050G>C
ENST00000561148.5:c.-319+3050G>C ENSP00000453860.1:n.-319+3050G>C
XM_011521450.1:c.31+3050G>C XP_011519752.1:n.31+3050G>C
NM_001321015.1:c.-395+3050G>C NP_001307944.1:n.-395+3050G>C
NM_001321015.2:c.-395+3050G>C NP_001307944.1:n.-395+3050G>C
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