Canonical Allele Identifier: CA5313506
Gene: DBH HGNC NCBI
COSMIC:
COSM35319 (not active)
MyVariant.info:
GRCh38 chr9:g.133652975A>G
GRCh37 chr9:g.136518097A>G
gnomAD v2:
9:136518097 A / G
gnomAD v3:
9:133652975 A / G
gnomAD v4:
chr9-133652975-A-G
Joint Max Group AF 0.89691644 (EAS)
Genomes Max Group AF 0.88044241 (EAS)
Exomes Max Group AF 0.89673197 (EAS)
ClinVar RCV:
RCV000402576
RCV001537445
ClinVar Variation:
365661
dbSNP:
77905
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133652975A>G , CM000671.2:g.133652975A>G GRCh38
NC_000009.11:g.136518097A>G , CM000671.1:g.136518097A>G GRCh37
NC_000009.10:g.135507918A>G NCBI36
NG_008645.1:g.21613A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.1410A>G MANE Select ENSP00000376776.2:p.Thr470=
ENST00000393056.6:c.1410A>G ENSP00000376776.2:p.Thr470=
NM_000787.3:c.1410A>G NP_000778.3:p.Thr470=
NM_000787.4:c.1410A>G MANE Select NP_000778.3:p.Thr470=
Search 100 bp 5'
Search 100 bp 3'