Canonical Allele Identifier: CA114486
Gene: MMADHC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 761
ClinVar RCV Id: RCV000000797
dbSNP Id: rs118204044

User contributed link-outs

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
NM_015702.2:c.776T>C VV NP_056517.1:p.Leu259Pro
NM_015702.3:c.776T>C VV MANE Preferred NP_056517.1: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