Canonical Allele Identifier: CA5313510

Gene: DBH

Linked Data

• ClinVar Variation Id: 529771
• ClinVar RCV Id: RCV000635251 ; RCV003965328
• dbSNP Id: rs369903212
• ExAC: 9:136518121 G / A
• gnomAD v2: 9-136518121-G-A
• gnomAD v3: 9-133652999-G-A
• gnomAD v4: 9-133652999-G-A
• MyVariant Identifiers: chr9:g.136518121G>A (hg19) ; chr9:g.133652999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133652999G>A , CM000671.2:g.133652999G>A	GRCh38
NC_000009.11:g.136518121G>A , CM000671.1:g.136518121G>A	GRCh37
NC_000009.10:g.135507942G>A	NCBI36
NG_008645.1:g.21637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.1434G>A MANE Select	ENSP00000376776.2:p.Val478=
ENST00000393056.6:c.1434G>A	ENSP00000376776.2:p.Val478=
NM_000787.3:c.1434G>A	NP_000778.3:p.Val478=
NM_000787.4:c.1434G>A MANE Select	NP_000778.3:p.Val478=