Canonical Allele Identifier: CA429405848
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 2918901
ClinVar RCV Id: RCV003601996
gnomAD v4: 2-149569974-C-T
MyVariant Identifiers: chr2:g.150426488C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569974C>T , CM000664.2:g.149569974C>T GRCh38
NC_000002.11:g.150426488C>T , CM000664.1:g.150426488C>T GRCh37
NC_000002.10:g.150134734C>T NCBI36
NG_009189.1:g.22843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.891G>A MANE Select ENSP00000301920.5:p.Ter297=
ENST00000303319.9:c.891G>A ENSP00000301920.5:p.Ter297=
ENST00000422782.2:c.993G>A ENSP00000408331.2:p.Ter331=
ENST00000428879.5:c.891G>A ENSP00000389060.1:p.Ter297=
NM_015702.2:c.891G>A NP_056517.1:p.Ter297=
NM_015702.3:c.891G>A MANE Select NP_056517.1:p.Ter297=
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