Canonical Allele Identifier: CA348869290
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 2676636
ClinVar RCV Id: RCV003476511
dbSNP Id: rs1429603095
gnomAD v3: 2-149570110-A-C
gnomAD v4: 2-149570110-A-C
MyVariant Identifiers: chr2:g.150426624A>C (hg19) chr2:g.149570110A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570110A>C , CM000664.2:g.149570110A>C GRCh38
NC_000002.11:g.150426624A>C , CM000664.1:g.150426624A>C GRCh37
NC_000002.10:g.150134870A>C NCBI36
NG_009189.1:g.22707T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.755T>G MANE Select ENSP00000301920.5:p.Leu252Ter
ENST00000303319.9:c.755T>G ENSP00000301920.5:p.Leu252Ter
ENST00000422782.2:c.857T>G ENSP00000408331.2:p.Leu286Ter
ENST00000428879.5:c.755T>G ENSP00000389060.1:p.Leu252Ter
NM_015702.2:c.755T>G NP_056517.1:p.Leu252Ter
NM_015702.3:c.755T>G MANE Select NP_056517.1:p.Leu252Ter
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