Canonical Allele Identifier: CA1297264200
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569804T= , CM000664.2:g.149569804T= GRCh38
NC_000002.11:g.150426318T= , CM000664.1:g.150426318T= GRCh37
NC_000002.10:g.150134564T= NCBI36
NG_009189.1:g.23013A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*170A= MANE Select ENSP00000301920.5:n.*170A=
ENST00000303319.9:c.*170A= ENSP00000301920.5:n.*170A=
ENST00000422782.2:c.*170A= ENSP00000408331.2:n.*170A=
ENST00000428879.5:c.*170A= ENSP00000389060.1:n.*170A=
NM_015702.2:c.*170A= NP_056517.1:n.*170A=
NM_015702.3:c.*170A= MANE Select NP_056517.1:n.*170A=