Canonical Allele Identifier: CA2661422147
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569904G>A , CM000664.2:g.149569904G>A GRCh38
NC_000002.11:g.150426418G>A , CM000664.1:g.150426418G>A GRCh37
NC_000002.10:g.150134664G>A NCBI36
NG_009189.1:g.22913C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*70C>T MANE Select ENSP00000301920.5:n.*70C>T
ENST00000303319.9:c.*70C>T ENSP00000301920.5:n.*70C>T
ENST00000422782.2:c.*70C>T ENSP00000408331.2:n.*70C>T
ENST00000428879.5:c.*70C>T ENSP00000389060.1:n.*70C>T
NM_015702.2:c.*70C>T NP_056517.1:n.*70C>T
NM_015702.3:c.*70C>T MANE Select NP_056517.1:n.*70C>T