Allele Registry

Canonical Allele Identifier: CA58335703

Gene: MMADHC-DT HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr2:g.149601110G>A

GRCh37 chr2:g.150457624G>A

Linked Data - Sequence & Population

gnomAD v2:

2:150457624 G / A

gnomAD v3:

2:149601110 G / A

gnomAD v4:

chr2-149601110-G-A

Joint Max Group AF 0.8376365 (EAS)

Genomes Max Group AF 0.8376365 (EAS)

Linked Data - NCBI & NCI

dbSNP:

10170236

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149601110G>A , CM000664.2:g.149601110G>A	GRCh38
NC_000002.11:g.150457624G>A , CM000664.1:g.150457624G>A	GRCh37
NC_000002.10:g.150165870G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_110240.1:n.493+13260G>A

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