Canonical Allele Identifier: CA10610881

Gene: MMADHC

Linked Data

• ClinVar Variation Id: 331374
• ClinVar RCV Id: RCV000362733 ; RCV000408333 ; RCV001672561
• dbSNP Id: rs6742604
• gnomAD v2: 2-150426399-A-G
• gnomAD v3: 2-149569885-A-G
• gnomAD v4: 2-149569885-A-G
• MyVariant Identifiers: chr2:g.150426399A>G (hg19) ; chr2:g.149569885A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149569885A>G , CM000664.2:g.149569885A>G	GRCh38
NC_000002.11:g.150426399A>G , CM000664.1:g.150426399A>G	GRCh37
NC_000002.10:g.150134645A>G	NCBI36
NG_009189.1:g.22932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.*89T>C MANE Select	ENSP00000301920.5:n.*89T>C
ENST00000303319.9:c.*89T>C	ENSP00000301920.5:n.*89T>C
ENST00000422782.2:c.*89T>C	ENSP00000408331.2:n.*89T>C
ENST00000428879.5:c.*89T>C	ENSP00000389060.1:n.*89T>C
NM_015702.2:c.*89T>C	NP_056517.1:n.*89T>C
NM_015702.3:c.*89T>C MANE Select	NP_056517.1:n.*89T>C