Canonical Allele Identifier: CA3085714930
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149582221A= , CM000664.2:g.149582221A= GRCh38
NC_000002.11:g.150438735A= , CM000664.1:g.150438735A= GRCh37
NC_000002.10:g.150146981A= NCBI36
NG_009189.1:g.10596T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.60T= MANE Select ENSP00000301920.5:p.Ser20=
ENST00000303319.9:c.60T= ENSP00000301920.5:p.Ser20=
ENST00000422782.2:c.60T= ENSP00000408331.2:p.Ser20=
ENST00000428879.5:c.60T= ENSP00000389060.1:p.Ser20=
NM_015702.2:c.60T= NP_056517.1:p.Ser20=
NM_015702.3:c.60T= MANE Select NP_056517.1:p.Ser20=