Canonical Allele Identifier: CA348868692
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569981C>A , CM000664.2:g.149569981C>A GRCh38
NC_000002.11:g.150426495C>A , CM000664.1:g.150426495C>A GRCh37
NC_000002.10:g.150134741C>A NCBI36
NG_009189.1:g.22836G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.884G>T MANE Select ENSP00000301920.5:p.Gly295Val
ENST00000303319.9:c.884G>T ENSP00000301920.5:p.Gly295Val
ENST00000422782.2:c.986G>T ENSP00000408331.2:p.Gly329Val
ENST00000428879.5:c.884G>T ENSP00000389060.1:p.Gly295Val
NM_015702.2:c.884G>T NP_056517.1:p.Gly295Val
NM_015702.3:c.884G>T MANE Select NP_056517.1:p.Gly295Val