Canonical Allele Identifier: CA536935050
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1191534080
gnomAD v2: 2-150426368-CA-C
gnomAD v3: 2-149569854-CA-C
gnomAD v4: 2-149569854-CA-C
MyVariant Identifiers: chr2:g.150426369del (hg19) chr2:g.149569855del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569855del , CM000664.2:g.149569855del GRCh38
NC_000002.11:g.150426369del , CM000664.1:g.150426369del GRCh37
NC_000002.10:g.150134615del NCBI36
NG_009189.1:g.22962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*119del MANE Select ENSP00000301920.5:n.*119del
ENST00000303319.9:c.*119del ENSP00000301920.5:n.*119del
ENST00000422782.2:c.*119del ENSP00000408331.2:n.*119del
ENST00000428879.5:c.*119del ENSP00000389060.1:n.*119del
NM_015702.2:c.*119del NP_056517.1:n.*119del
NM_015702.3:c.*119del MANE Select NP_056517.1:n.*119del
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