Canonical Allele Identifier: CA58335691
Gene: MMADHC-DT HGNC NCBI

Linked Data

dbSNP Id: rs1039160541
gnomAD v3: 2-149600975-T-C
gnomAD v4: 2-149600975-T-C
MyVariant Identifiers: chr2:g.150457489T>C (hg19) chr2:g.149600975T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149600975T>C , CM000664.2:g.149600975T>C GRCh38
NC_000002.11:g.150457489T>C , CM000664.1:g.150457489T>C GRCh37
NC_000002.10:g.150165735T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_110240.1:n.493+13125T>C
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