Canonical Allele Identifier: CA347623
Gene: DBH HGNC NCBI
COSMIC:
COSM4761767 (not active)
MyVariant.info:
GRCh38 chr9:g.133636672G>A
GRCh37 chr9:g.136501794G>A
Revel Score:
ENST00000393056 (MANE Select) 0.474
ENST00000371880 0.474
ENST00000263611 0.474
gnomAD v2:
9:136501794 G / A
gnomAD v3:
9:133636672 G / A
gnomAD v4:
chr9-133636672-G-A
Joint Max Group AF 0.00007491 (NFE)
Genomes Max Group AF 0.00005841 (NFE)
Exomes Max Group AF 0.00007311 (NFE)
ClinVar RCV:
RCV000201816
ClinVar Variation:
217761
dbSNP:
267606760
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133636672G>A , CM000671.2:g.133636672G>A GRCh38
NC_000009.11:g.136501794G>A , CM000671.1:g.136501794G>A GRCh37
NC_000009.10:g.135491615G>A NCBI36
NG_008645.1:g.5310G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263611.3:c.295G>A ENSP00000263611.3:p.Val99Met
ENST00000393056.8:c.301G>A MANE Select ENSP00000376776.2:p.Val101Met
ENST00000263611.2:c.259G>A ENSP00000263611.2:p.Val87Met
ENST00000393056.6:c.301G>A ENSP00000376776.2:p.Val101Met
NM_000787.3:c.301G>A NP_000778.3:p.Val101Met
NM_000787.4:c.301G>A MANE Select NP_000778.3:p.Val101Met
Search 100 bp 5'
Search 100 bp 3'