Canonical Allele Identifier: CA348869346
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570122C>G , CM000664.2:g.149570122C>G GRCh38
NC_000002.11:g.150426636C>G , CM000664.1:g.150426636C>G GRCh37
NC_000002.10:g.150134882C>G NCBI36
NG_009189.1:g.22695G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.743G>C MANE Select ENSP00000301920.5:p.Arg248Pro
ENST00000303319.9:c.743G>C ENSP00000301920.5:p.Arg248Pro
ENST00000422782.2:c.845G>C ENSP00000408331.2:p.Arg282Pro
ENST00000428879.5:c.743G>C ENSP00000389060.1:p.Arg248Pro
NM_015702.2:c.743G>C NP_056517.1:p.Arg248Pro
NM_015702.3:c.743G>C MANE Select NP_056517.1:p.Arg248Pro