Canonical Allele Identifier: CA1902238

Gene: MMADHC

Linked Data

• dbSNP Id: rs755691377
• ExAC: 2:150426479 A / G
• gnomAD v2: 2-150426479-A-G
• gnomAD v4: 2-149569965-A-G
• MyVariant Identifiers: chr2:g.150426479A>G (hg19) ; chr2:g.149569965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149569965A>G , CM000664.2:g.149569965A>G	GRCh38
NC_000002.11:g.150426479A>G , CM000664.1:g.150426479A>G	GRCh37
NC_000002.10:g.150134725A>G	NCBI36
NG_009189.1:g.22852T>C

Transcript Alleles

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