Canonical Allele Identifier: CA5313632
Gene: DBH HGNC NCBI
DBH-AS1 HGNC NCBI
COSMIC:
COSM5021649 (not active)
MyVariant.info:
GRCh38 chr9:g.133657152C>T
GRCh37 chr9:g.136522274C>T
Revel Score:
ENST00000393056 (MANE Select) 0.182
gnomAD v2:
9:136522274 C / T
gnomAD v3:
9:133657152 C / T
gnomAD v4:
chr9-133657152-C-T
Joint Max Group AF 0.07174937 (NFE)
Genomes Max Group AF 0.06838144 (NFE)
Exomes Max Group AF 0.07186593 (NFE)
ClinVar RCV:
RCV000318690
RCV001653753
ClinVar Variation:
365671
dbSNP:
6271
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133657152C>T , CM000671.2:g.133657152C>T GRCh38
NC_000009.11:g.136522274C>T , CM000671.1:g.136522274C>T GRCh37
NC_000009.10:g.135512095C>T NCBI36
NG_008645.1:g.25790C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.1645C>T (DBH) MANE Select ENSP00000376776.2:p.Arg549Cys
ENST00000393056.6:c.1645C>T (DBH) ENSP00000376776.2:p.Arg549Cys
NM_000787.3:c.1645C>T (DBH) NP_000778.3:p.Arg549Cys
NR_102735.1:n.257G>A (DBH-AS1)
NM_000787.4:c.1645C>T (DBH) MANE Select NP_000778.3:p.Arg549Cys
Search 100 bp 5'
Search 100 bp 3'