Canonical Allele Identifier: CA429405899
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1382927782

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570058G>A , CM000664.2:g.149570058G>A GRCh38
NC_000002.11:g.150426572G>A , CM000664.1:g.150426572G>A GRCh37
NC_000002.10:g.150134818G>A NCBI36
NG_009189.1:g.22759C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.807C>T MANE Select ENSP00000301920.5:p.Leu269=
ENST00000303319.9:c.807C>T ENSP00000301920.5:p.Leu269=
ENST00000422782.2:c.909C>T ENSP00000408331.2:p.Leu303=
ENST00000428879.5:c.807C>T ENSP00000389060.1:p.Leu269=
NM_015702.2:c.807C>T NP_056517.1:p.Leu269=
NM_015702.3:c.807C>T MANE Select NP_056517.1:p.Leu269=