Canonical Allele Identifier: CA348868807
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570011G>C , CM000664.2:g.149570011G>C GRCh38
NC_000002.11:g.150426525G>C , CM000664.1:g.150426525G>C GRCh37
NC_000002.10:g.150134771G>C NCBI36
NG_009189.1:g.22806C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.854C>G MANE Select ENSP00000301920.5:p.Pro285Arg
ENST00000303319.9:c.854C>G ENSP00000301920.5:p.Pro285Arg
ENST00000422782.2:c.956C>G ENSP00000408331.2:p.Pro319Arg
ENST00000428879.5:c.854C>G ENSP00000389060.1:p.Pro285Arg
NM_015702.2:c.854C>G NP_056517.1:p.Pro285Arg
NM_015702.3:c.854C>G MANE Select NP_056517.1:p.Pro285Arg