Canonical Allele Identifier: CA5313730

Gene: DBH

Linked Data

• ClinVar Variation Id: 365677
• ClinVar RCV Id: RCV000343761 ; RCV002524590
• dbSNP Id: rs76316834
• ExAC: 9:136523555 G / A
• gnomAD v2: 9-136523555-G-A
• gnomAD v3: 9-133658433-G-A
• gnomAD v4: 9-133658433-G-A
• MyVariant Identifiers: chr9:g.136523555G>A (hg19) ; chr9:g.133658433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133658433G>A , CM000671.2:g.133658433G>A	GRCh38
NC_000009.11:g.136523555G>A , CM000671.1:g.136523555G>A	GRCh37
NC_000009.10:g.135513376G>A	NCBI36
NG_008645.1:g.27071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.1840G>A MANE Select	ENSP00000376776.2:p.Gly614Arg
ENST00000393056.6:c.1840G>A	ENSP00000376776.2:p.Gly614Arg
NM_000787.3:c.1840G>A	NP_000778.3:p.Gly614Arg
NM_000787.4:c.1840G>A MANE Select	NP_000778.3:p.Gly614Arg