Canonical Allele Identifier: CA1297264138
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569649G= , CM000664.2:g.149569649G= GRCh38
NC_000002.11:g.150426163G= , CM000664.1:g.150426163G= GRCh37
NC_000002.10:g.150134409G= NCBI36
NG_009189.1:g.23168C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*325C= MANE Select ENSP00000301920.5:n.*325C=
ENST00000303319.9:c.*325C= ENSP00000301920.5:n.*325C=
ENST00000428879.5:c.*325C= ENSP00000389060.1:n.*325C=
NM_015702.2:c.*325C= NP_056517.1:n.*325C=
NM_015702.3:c.*325C= MANE Select NP_056517.1:n.*325C=