Canonical Allele Identifier: CA375415480

Gene: DBH

Linked Data

• dbSNP Id: rs1485166352
• gnomAD v2: 9-136509395-G-A
• gnomAD v4: 9-133644273-G-A
• MyVariant Identifiers: chr9:g.136509395G>A (hg19) ; chr9:g.133644273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644273G>A , CM000671.2:g.133644273G>A	GRCh38
NC_000009.11:g.136509395G>A , CM000671.1:g.136509395G>A	GRCh37
NC_000009.10:g.135499216G>A	NCBI36
NG_008645.1:g.12911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.977G>A MANE Select	ENSP00000376776.2:p.Arg326Lys
ENST00000393056.6:c.977G>A	ENSP00000376776.2:p.Arg326Lys
NM_000787.3:c.977G>A	NP_000778.3:p.Arg326Lys
NM_000787.4:c.977G>A MANE Select	NP_000778.3:p.Arg326Lys