Canonical Allele Identifier: CA758720439
Gene: MMADHC-DT HGNC NCBI

Linked Data

dbSNP Id: rs1421031352
gnomAD v3: 2-149600940-A-G
gnomAD v4: 2-149600940-A-G
MyVariant Identifiers: chr2:g.150457454A>G (hg19) chr2:g.149600940A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149600940A>G , CM000664.2:g.149600940A>G GRCh38
NC_000002.11:g.150457454A>G , CM000664.1:g.150457454A>G GRCh37
NC_000002.10:g.150165700A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_110240.1:n.493+13090A>G
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