Canonical Allele Identifier: CA348869395
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426648T>G (hg19) chr2:g.149570134T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570134T>G , CM000664.2:g.149570134T>G GRCh38
NC_000002.11:g.150426648T>G , CM000664.1:g.150426648T>G GRCh37
NC_000002.10:g.150134894T>G NCBI36
NG_009189.1:g.22683A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.731A>C MANE Select ENSP00000301920.5:p.Glu244Ala
ENST00000303319.9:c.731A>C ENSP00000301920.5:p.Glu244Ala
ENST00000422782.2:c.833A>C ENSP00000408331.2:p.Glu278Ala
ENST00000428879.5:c.731A>C ENSP00000389060.1:p.Glu244Ala
NM_015702.2:c.731A>C NP_056517.1:p.Glu244Ala
NM_015702.3:c.731A>C MANE Select NP_056517.1:p.Glu244Ala
Search 100 bp 5'
Search 100 bp 3'