Canonical Allele Identifier: CA312745

Gene: MMADHC

Linked Data

• ClinVar Variation Id: 203837
• ClinVar RCV Id: RCV000186037 ; RCV000641147 ; RCV001091563 ; RCV001128816
• dbSNP Id: rs141093638
• ExAC: 2:150427649 G / C
• gnomAD v2: 2-150427649-G-C
• gnomAD v3: 2-149571135-G-C
• gnomAD v4: 2-149571135-G-C
• MyVariant Identifiers: chr2:g.150427649G>C (hg19) ; chr2:g.149571135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149571135G>C , CM000664.2:g.149571135G>C	GRCh38
NC_000002.11:g.150427649G>C , CM000664.1:g.150427649G>C	GRCh37
NC_000002.10:g.150135895G>C	NCBI36
NG_009189.1:g.21682C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303319.10:c.646C>G MANE Select	ENSP00000301920.5:p.Arg216Gly
ENST00000303319.9:c.646C>G	ENSP00000301920.5:p.Arg216Gly
ENST00000422782.2:c.748C>G	ENSP00000408331.2:p.Arg250Gly
ENST00000428879.5:c.646C>G	ENSP00000389060.1:p.Arg216Gly
NM_015702.2:c.646C>G	NP_056517.1:p.Arg216Gly
NM_015702.3:c.646C>G MANE Select	NP_056517.1:p.Arg216Gly