Canonical Allele Identifier: CA339913

Gene: DBH

Linked Data

• ClinVar Variation Id: 1751
• ClinVar RCV Id: RCV000001821
• dbSNP Id: rs77576840
• ExAC: 9:136504970 C / A
• gnomAD v2: 9-136504970-C-A
• gnomAD v3: 9-133639848-C-A
• gnomAD v4: 9-133639848-C-A
• MyVariant Identifiers: chr9:g.136504970C>A (hg19) ; chr9:g.133639848C>A (hg38)
• PubMed: PMID:11857564 ; PMID:20301647

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133639848C>A , CM000671.2:g.133639848C>A	GRCh38
NC_000009.11:g.136504970C>A , CM000671.1:g.136504970C>A	GRCh37
NC_000009.10:g.135494791C>A	NCBI36
NG_008645.1:g.8486C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263611.3:c.334-2359C>A	ENSP00000263611.3:n.334-2359C>A
ENST00000393056.8:c.342C>A MANE Select	ENSP00000376776.2:p.Asp114Glu
ENST00000263611.2:c.298-2359C>A	ENSP00000263611.2:n.298-2359C>A
ENST00000393056.6:c.342C>A	ENSP00000376776.2:p.Asp114Glu
NM_000787.3:c.342C>A	NP_000778.3:p.Asp114Glu
NM_000787.4:c.342C>A MANE Select	NP_000778.3:p.Asp114Glu