Canonical Allele Identifier: CA375415425
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 2302079
ClinVar RCV Id: RCV002869244

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644264G>A , CM000671.2:g.133644264G>A GRCh38
NC_000009.11:g.136509386G>A , CM000671.1:g.136509386G>A GRCh37
NC_000009.10:g.135499207G>A NCBI36
NG_008645.1:g.12902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.968G>A MANE Select ENSP00000376776.2:p.Gly323Glu
ENST00000393056.6:c.968G>A ENSP00000376776.2:p.Gly323Glu
NM_000787.3:c.968G>A NP_000778.3:p.Gly323Glu
NM_000787.4:c.968G>A MANE Select NP_000778.3:p.Gly323Glu