Canonical Allele Identifier: CA2661422140
Gene: MMADHC HGNC NCBI

Linked Data

gnomAD v4: 2-149569898-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569898A>T , CM000664.2:g.149569898A>T GRCh38
NC_000002.11:g.150426412A>T , CM000664.1:g.150426412A>T GRCh37
NC_000002.10:g.150134658A>T NCBI36
NG_009189.1:g.22919T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.*76T>A MANE Select ENSP00000301920.5:n.*76T>A
ENST00000303319.9:c.*76T>A ENSP00000301920.5:n.*76T>A
ENST00000422782.2:c.*76T>A ENSP00000408331.2:n.*76T>A
ENST00000428879.5:c.*76T>A ENSP00000389060.1:n.*76T>A
NM_015702.2:c.*76T>A NP_056517.1:n.*76T>A
NM_015702.3:c.*76T>A MANE Select NP_056517.1:n.*76T>A
Search 100 bp 5'
Search 100 bp 3'