Canonical Allele Identifier: CA1297264269
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569989T= , CM000664.2:g.149569989T= GRCh38
NC_000002.11:g.150426503T= , CM000664.1:g.150426503T= GRCh37
NC_000002.10:g.150134749T= NCBI36
NG_009189.1:g.22828A=

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.876A= MANE Select ENSP00000301920.5:p.Lys292=
ENST00000303319.9:c.876A= ENSP00000301920.5:p.Lys292=
ENST00000422782.2:c.978A= ENSP00000408331.2:p.Lys326=
ENST00000428879.5:c.876A= ENSP00000389060.1:p.Lys292=
NM_015702.2:c.876A= NP_056517.1:p.Lys292=
NM_015702.3:c.876A= MANE Select NP_056517.1:p.Lys292=