Canonical Allele Identifier: CA251601
Gene: MMADHC HGNC NCBI
gnomAD v2:
2:150433009 G / GT
gnomAD v3:
2:149576495 G / GT
gnomAD v4:
chr2-149576495-G-GT
Joint Max Group AF 0.00000183 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000000804
ClinVar Variation:
768
dbSNP:
397509363
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149576496dup , CM000664.2:g.149576496dup GRCh38
NC_000002.11:g.150433010dup , CM000664.1:g.150433010dup GRCh37
NC_000002.10:g.150141256dup NCBI36
NG_009189.1:g.16321dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.419dup MANE Select ENSP00000301920.5:p.Tyr140Ter
ENST00000303319.9:c.419dup ENSP00000301920.5:p.Tyr140Ter
ENST00000422782.2:c.419dup ENSP00000408331.2:p.Tyr140Ter
ENST00000428879.5:c.419dup ENSP00000389060.1:p.Tyr140Ter
NM_015702.2:c.419dup NP_056517.1:p.Tyr140Ter
NM_015702.3:c.419dup MANE Select NP_056517.1:p.Tyr140Ter
Search 100 bp 5'
Search 100 bp 3'