Canonical Allele Identifier: CA13002662
Gene: DBH HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133651448C>A
GRCh37 chr9:g.136516570C>A
gnomAD v2:
9:136516570 C / A
gnomAD v3:
9:133651448 C / A
gnomAD v4:
chr9-133651448-C-A
Joint Max Group AF 0.83377154 (EAS)
Genomes Max Group AF 0.83377154 (EAS)
ClinVar RCV:
RCV001688537
ClinVar Variation:
1280518
dbSNP:
739398
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133651448C>A , CM000671.2:g.133651448C>A GRCh38
NC_000009.11:g.136516570C>A , CM000671.1:g.136516570C>A GRCh37
NC_000009.10:g.135506391C>A NCBI36
NG_008645.1:g.20086C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.1192-186C>A MANE Select ENSP00000376776.2:n.1192-186C>A
ENST00000393056.6:c.1192-186C>A ENSP00000376776.2:n.1192-186C>A
NM_000787.3:c.1192-186C>A NP_000778.3:n.1192-186C>A
NM_000787.4:c.1192-186C>A MANE Select NP_000778.3:n.1192-186C>A
Search 100 bp 5'
Search 100 bp 3'