Canonical Allele Identifier: CA1902273

Gene: MMADHC

Linked Data

• dbSNP Id: rs753705103
• ExAC: 2:150426634 A / G
• gnomAD v2: 2-150426634-A-G
• gnomAD v4: 2-149570120-A-G
• MyVariant Identifiers: chr2:g.150426634A>G (hg19) ; chr2:g.149570120A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570120A>G , CM000664.2:g.149570120A>G	GRCh38
NC_000002.11:g.150426634A>G , CM000664.1:g.150426634A>G	GRCh37
NC_000002.10:g.150134880A>G	NCBI36
NG_009189.1:g.22697T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303319.10:c.745T>C MANE Select	ENSP00000301920.5:p.Tyr249His
ENST00000303319.9:c.745T>C	ENSP00000301920.5:p.Tyr249His
ENST00000422782.2:c.847T>C	ENSP00000408331.2:p.Tyr283His
ENST00000428879.5:c.745T>C	ENSP00000389060.1:p.Tyr249His
NM_015702.2:c.745T>C	NP_056517.1:p.Tyr249His
NM_015702.3:c.745T>C MANE Select	NP_056517.1:p.Tyr249His