Canonical Allele Identifier: CA114489

Gene: MMADHC

Linked Data

• ClinVar Variation Id: 765
• ClinVar RCV Id: RCV000000801 ; RCV000203332
• dbSNP Id: rs118204047
• gnomAD v4: 2-149579643-G-A
• COSMIC: COSM276085
• MyVariant Identifiers: chr2:g.150436157G>A (hg19) ; chr2:g.149579643G>A (hg38)
• PubMed: PMID:18385497 ; PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149579643G>A , CM000664.2:g.149579643G>A	GRCh38
NC_000002.11:g.150436157G>A , CM000664.1:g.150436157G>A	GRCh37
NC_000002.10:g.150144403G>A	NCBI36
NG_009189.1:g.13174C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303319.10:c.160C>T MANE Select	ENSP00000301920.5:p.Arg54Ter
ENST00000303319.9:c.160C>T	ENSP00000301920.5:p.Arg54Ter
ENST00000422782.2:c.160C>T	ENSP00000408331.2:p.Arg54Ter
ENST00000428879.5:c.160C>T	ENSP00000389060.1:p.Arg54Ter
NM_015702.2:c.160C>T	NP_056517.1:p.Arg54Ter
NM_015702.3:c.160C>T MANE Select	NP_056517.1:p.Arg54Ter