Canonical Allele Identifier: CA1902258

Gene: MMADHC

Linked Data

• ClinVar Variation Id: 331375
• ClinVar RCV Id: RCV000312594 ; RCV000367307
• dbSNP Id: rs753424109
• ExAC: 2:150426579 T / C
• gnomAD v2: 2-150426579-T-C
• gnomAD v4: 2-149570065-T-C
• COSMIC: COSM5781139
• MyVariant Identifiers: chr2:g.150426579T>C (hg19) ; chr2:g.149570065T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570065T>C , CM000664.2:g.149570065T>C	GRCh38
NC_000002.11:g.150426579T>C , CM000664.1:g.150426579T>C	GRCh37
NC_000002.10:g.150134825T>C	NCBI36
NG_009189.1:g.22752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.800A>G MANE Select	ENSP00000301920.5:p.His267Arg
ENST00000303319.9:c.800A>G	ENSP00000301920.5:p.His267Arg
ENST00000422782.2:c.902A>G	ENSP00000408331.2:p.His301Arg
ENST00000428879.5:c.800A>G	ENSP00000389060.1:p.His267Arg
NM_015702.2:c.800A>G	NP_056517.1:p.His267Arg
NM_015702.3:c.800A>G MANE Select	NP_056517.1:p.His267Arg