Canonical Allele Identifier: CA860776661
Gene: DBH HGNC NCBI

Linked Data

dbSNP Id: rs1191444570
gnomAD v3: 9-133644253-C-CG
gnomAD v4: 9-133644253-C-CG
MyVariant Identifiers: chr9:g.136509375_136509376insG (hg19) chr9:g.133644253_133644254insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644258dup , CM000671.2:g.133644258dup GRCh38
NC_000009.11:g.136509380dup , CM000671.1:g.136509380dup GRCh37
NC_000009.10:g.135499201dup NCBI36
NG_008645.1:g.12896dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.962dup MANE Select ENSP00000376776.2:p.Pro322SerfsTer?
ENST00000393056.6:c.962dup ENSP00000376776.2:p.Pro322SerfsTer?
NM_000787.3:c.962dup NP_000778.3:p.Pro322SerfsTer?
NM_000787.4:c.962dup MANE Select NP_000778.3:p.Pro322SerfsTer?
Search 100 bp 5'
Search 100 bp 3'