Canonical Allele Identifier: CA10612253
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 331371
ClinVar RCV Id: RCV000341597 RCV000398902
dbSNP Id: rs528409808
gnomAD v2: 2-150426247-T-C
gnomAD v3: 2-149569733-T-C
gnomAD v4: 2-149569733-T-C
MyVariant Identifiers: chr2:g.150426247T>C (hg19) chr2:g.149569733T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569733T>C , CM000664.2:g.149569733T>C GRCh38
NC_000002.11:g.150426247T>C , CM000664.1:g.150426247T>C GRCh37
NC_000002.10:g.150134493T>C NCBI36
NG_009189.1:g.23084A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*241A>G MANE Select ENSP00000301920.5:n.*241A>G
ENST00000303319.9:c.*241A>G ENSP00000301920.5:n.*241A>G
ENST00000422782.2:c.*241A>G ENSP00000408331.2:n.*241A>G
ENST00000428879.5:c.*241A>G ENSP00000389060.1:n.*241A>G
NM_015702.2:c.*241A>G NP_056517.1:n.*241A>G
NM_015702.3:c.*241A>G MANE Select NP_056517.1:n.*241A>G
Search 100 bp 5'
Search 100 bp 3'