Canonical Allele Identifier: CA58332373
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs376038549

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570311dup , CM000664.2:g.149570311dup GRCh38
NC_000002.11:g.150426825dup , CM000664.1:g.150426825dup GRCh37
NC_000002.10:g.150135071dup NCBI36
NG_009189.1:g.22508dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.697-141dup MANE Select ENSP00000301920.5:n.697-141dup
ENST00000303319.9:c.697-141dup ENSP00000301920.5:n.697-141dup
ENST00000422782.2:c.799-141dup ENSP00000408331.2:n.799-141dup
ENST00000428879.5:c.697-141dup ENSP00000389060.1:n.697-141dup
NM_015702.2:c.697-141dup NP_056517.1:n.697-141dup
NM_015702.3:c.697-141dup MANE Select NP_056517.1:n.697-141dup