Canonical Allele Identifier: CA2518218522
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569901T>A , CM000664.2:g.149569901T>A GRCh38
NC_000002.11:g.150426415T>A , CM000664.1:g.150426415T>A GRCh37
NC_000002.10:g.150134661T>A NCBI36
NG_009189.1:g.22916A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.*73A>T MANE Select ENSP00000301920.5:n.*73A>T
ENST00000303319.9:c.*73A>T ENSP00000301920.5:n.*73A>T
ENST00000422782.2:c.*73A>T ENSP00000408331.2:n.*73A>T
ENST00000428879.5:c.*73A>T ENSP00000389060.1:n.*73A>T
NM_015702.2:c.*73A>T NP_056517.1:n.*73A>T
NM_015702.3:c.*73A>T MANE Select NP_056517.1:n.*73A>T