Canonical Allele Identifier: CA114486
Gene: MMADHC HGNC NCBI
ClinVar RCV:
RCV000000797
RCV003147271
ClinVar Variation:
761
dbSNP:
118204044
gnomAD v2:
2:150426603 A / G
gnomAD v4:
chr2-149570089-A-G
Joint Max Group AF 0.00001724 (NFE)
Exomes Max Group AF 0.0000183 (NFE)
MyVariant.info:
GRCh38 chr2:g.149570089A>G
GRCh37 chr2:g.150426603A>G
Revel Score:
ENST00000303319 (MANE Select) 0.880
ENST00000428879 0.880
ENST00000422782 0.880
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570089A>G , CM000664.2:g.149570089A>G GRCh38
NC_000002.11:g.150426603A>G , CM000664.1:g.150426603A>G GRCh37
NC_000002.10:g.150134849A>G NCBI36
NG_009189.1:g.22728T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.776T>C MANE Select ENSP00000301920.5:p.Leu259Pro
ENST00000303319.9:c.776T>C ENSP00000301920.5:p.Leu259Pro
ENST00000422782.2:c.878T>C ENSP00000408331.2:p.Leu293Pro
ENST00000428879.5:c.776T>C ENSP00000389060.1:p.Leu259Pro
NM_015702.2:c.776T>C NP_056517.1:p.Leu259Pro
NM_015702.3:c.776T>C MANE Select NP_056517.1:p.Leu259Pro
Search 100 bp 5'
Search 100 bp 3'