Canonical Allele Identifier: CA347632
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 217758
dbSNP Id: rs1108580

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133639992A>G , CM000671.2:g.133639992A>G GRCh38
NC_000009.11:g.136505114A>G , CM000671.1:g.136505114A>G GRCh37
NC_000009.10:g.135494935A>G NCBI36
NG_008645.1:g.8630A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263611.3:c.334-2215A>G ENSP00000263611.3:n.334-2215A>G
ENST00000393056.8:c.486A>G MANE Select ENSP00000376776.2:p.Glu162=
ENST00000263611.2:c.298-2215A>G ENSP00000263611.2:n.298-2215A>G
ENST00000393056.6:c.486A>G ENSP00000376776.2:p.Glu162=
NM_000787.3:c.486A>G NP_000778.3:p.Glu162=
NM_000787.4:c.486A>G MANE Select NP_000778.3:p.Glu162=