Canonical Allele Identifier: CA348868785
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 1716631
ClinVar RCV Id: RCV002295940
dbSNP Id: rs1573873718
MyVariant Identifiers: chr2:g.150426522T>G (hg19) chr2:g.149570008T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570008T>G , CM000664.2:g.149570008T>G GRCh38
NC_000002.11:g.150426522T>G , CM000664.1:g.150426522T>G GRCh37
NC_000002.10:g.150134768T>G NCBI36
NG_009189.1:g.22809A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.857A>C MANE Select ENSP00000301920.5:p.Asp286Ala
ENST00000303319.9:c.857A>C ENSP00000301920.5:p.Asp286Ala
ENST00000422782.2:c.959A>C ENSP00000408331.2:p.Asp320Ala
ENST00000428879.5:c.857A>C ENSP00000389060.1:p.Asp286Ala
NM_015702.2:c.857A>C NP_056517.1:p.Asp286Ala
NM_015702.3:c.857A>C MANE Select NP_056517.1:p.Asp286Ala
Search 100 bp 5'
Search 100 bp 3'