Canonical Allele Identifier: CA347616

Gene: DBH

Linked Data

• ClinVar Variation Id: 217764
• ClinVar RCV Id: RCV000201811
• dbSNP Id: rs267606761
• ExAC: 9:136512976 G / A
• gnomAD v2: 9-136512976-G-A
• gnomAD v3: 9-133647854-G-A
• gnomAD v4: 9-133647854-G-A
• COSMIC: COSM1106493
• MyVariant Identifiers: chr9:g.136512976G>A (hg19) ; chr9:g.133647854G>A (hg38)
• PubMed: PMID:20301647

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133647854G>A , CM000671.2:g.133647854G>A	GRCh38
NC_000009.11:g.136512976G>A , CM000671.1:g.136512976G>A	GRCh37
NC_000009.10:g.135502797G>A	NCBI36
NG_008645.1:g.16492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.1033G>A MANE Select	ENSP00000376776.2:p.Asp345Asn
ENST00000393056.6:c.1033G>A	ENSP00000376776.2:p.Asp345Asn
NM_000787.3:c.1033G>A	NP_000778.3:p.Asp345Asn
NM_000787.4:c.1033G>A MANE Select	NP_000778.3:p.Asp345Asn