Canonical Allele Identifier: CA1902256

Gene: MMADHC

Linked Data

• dbSNP Id: rs756095776
• ExAC: 2:150426564 G / T
• gnomAD v2: 2-150426564-G-T
• gnomAD v4: 2-149570050-G-T
• MyVariant Identifiers: chr2:g.150426564G>T (hg19) ; chr2:g.149570050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570050G>T , CM000664.2:g.149570050G>T	GRCh38
NC_000002.11:g.150426564G>T , CM000664.1:g.150426564G>T	GRCh37
NC_000002.10:g.150134810G>T	NCBI36
NG_009189.1:g.22767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.815C>A MANE Select	ENSP00000301920.5:p.Thr272Asn
ENST00000303319.9:c.815C>A	ENSP00000301920.5:p.Thr272Asn
ENST00000422782.2:c.917C>A	ENSP00000408331.2:p.Thr306Asn
ENST00000428879.5:c.815C>A	ENSP00000389060.1:p.Thr272Asn
NM_015702.2:c.815C>A	NP_056517.1:p.Thr272Asn
NM_015702.3:c.815C>A MANE Select	NP_056517.1:p.Thr272Asn