Canonical Allele Identifier: CA347623
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 217761
ClinVar RCV Id: RCV000201816
dbSNP Id: rs267606760

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