Canonical Allele Identifier: CA1902266

Gene: MMADHC

Linked Data

• dbSNP Id: rs748309103
• ExAC: 2:150426613 C / T
• gnomAD v2: 2-150426613-C-T
• gnomAD v4: 2-149570099-C-T
• MyVariant Identifiers: chr2:g.150426613C>T (hg19) ; chr2:g.149570099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570099C>T , CM000664.2:g.149570099C>T	GRCh38
NC_000002.11:g.150426613C>T , CM000664.1:g.150426613C>T	GRCh37
NC_000002.10:g.150134859C>T	NCBI36
NG_009189.1:g.22718G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303319.10:c.766G>A MANE Select	ENSP00000301920.5:p.Val256Ile
ENST00000303319.9:c.766G>A	ENSP00000301920.5:p.Val256Ile
ENST00000422782.2:c.868G>A	ENSP00000408331.2:p.Val290Ile
ENST00000428879.5:c.766G>A	ENSP00000389060.1:p.Val256Ile
NM_015702.2:c.766G>A	NP_056517.1:p.Val256Ile
NM_015702.3:c.766G>A MANE Select	NP_056517.1:p.Val256Ile