Canonical Allele Identifier: CA591067147

Gene: DBH

Linked Data

• dbSNP Id: rs1169789308
• gnomAD v2: 9-136509331-C-G
• gnomAD v4: 9-133644209-C-G
• MyVariant Identifiers: chr9:g.136509331C>G (hg19) ; chr9:g.133644209C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644209C>G , CM000671.2:g.133644209C>G	GRCh38
NC_000009.11:g.136509331C>G , CM000671.1:g.136509331C>G	GRCh37
NC_000009.10:g.135499152C>G	NCBI36
NG_008645.1:g.12847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.922-9C>G MANE Select	ENSP00000376776.2:n.922-9C>G
ENST00000393056.6:c.922-9C>G	ENSP00000376776.2:n.922-9C>G
NM_000787.3:c.922-9C>G	NP_000778.3:n.922-9C>G
NM_000787.4:c.922-9C>G MANE Select	NP_000778.3:n.922-9C>G