Canonical Allele Identifier: CA1297264261
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1682613766
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569973_149569975del , CM000664.2:g.149569973_149569975del GRCh38
NC_000002.11:g.150426487_150426489del , CM000664.1:g.150426487_150426489del GRCh37
NC_000002.10:g.150134733_150134735del NCBI36
NG_009189.1:g.22844_22846del

Transcript Alleles

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