Canonical Allele Identifier: CA58335690
Gene: MMADHC-DT HGNC NCBI

Linked Data

dbSNP Id: rs1019399526
gnomAD v3: 2-149600959-G-A
gnomAD v4: 2-149600959-G-A
MyVariant Identifiers: chr2:g.150457473G>A (hg19) chr2:g.149600959G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149600959G>A , CM000664.2:g.149600959G>A GRCh38
NC_000002.11:g.150457473G>A , CM000664.1:g.150457473G>A GRCh37
NC_000002.10:g.150165719G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_110240.1:n.493+13109G>A
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