Canonical Allele Identifier: CA536935045
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1346885503
gnomAD v2: 2-150426161-ATG-A
gnomAD v3: 2-149569647-ATG-A
gnomAD v4: 2-149569647-ATG-A
MyVariant Identifiers: chr2:g.150426162_150426163del (hg19) chr2:g.149569648_149569649del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569652_149569653del , CM000664.2:g.149569652_149569653del GRCh38
NC_000002.11:g.150426166_150426167del , CM000664.1:g.150426166_150426167del GRCh37
NC_000002.10:g.150134412_150134413del NCBI36
NG_009189.1:g.23168_23169del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*325_*326del MANE Select ENSP00000301920.5:n.*325_*326del
ENST00000303319.9:c.*325_*326del ENSP00000301920.5:n.*325_*326del
ENST00000428879.5:c.*325_*326del ENSP00000389060.1:n.*325_*326del
NM_015702.2:c.*325_*326del NP_056517.1:n.*325_*326del
NM_015702.3:c.*325_*326del MANE Select NP_056517.1:n.*325_*326del
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