Canonical Allele Identifier: CA348868748
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570000T>G , CM000664.2:g.149570000T>G GRCh38
NC_000002.11:g.150426514T>G , CM000664.1:g.150426514T>G GRCh37
NC_000002.10:g.150134760T>G NCBI36
NG_009189.1:g.22817A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.865A>C MANE Select ENSP00000301920.5:p.Ile289Leu
ENST00000303319.9:c.865A>C ENSP00000301920.5:p.Ile289Leu
ENST00000422782.2:c.967A>C ENSP00000408331.2:p.Ile323Leu
ENST00000428879.5:c.865A>C ENSP00000389060.1:p.Ile289Leu
NM_015702.2:c.865A>C NP_056517.1:p.Ile289Leu
NM_015702.3:c.865A>C MANE Select NP_056517.1:p.Ile289Leu