Canonical Allele Identifier: CA860776554

Gene: DBH

Linked Data

• dbSNP Id: rs1404842420
• gnomAD v3: 9-133644102-G-C
• gnomAD v4: 9-133644102-G-C
• MyVariant Identifiers: chr9:g.136509224G>C (hg19) ; chr9:g.133644102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644102G>C , CM000671.2:g.133644102G>C	GRCh38
NC_000009.11:g.136509224G>C , CM000671.1:g.136509224G>C	GRCh37
NC_000009.10:g.135499045G>C	NCBI36
NG_008645.1:g.12740G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.922-116G>C MANE Select	ENSP00000376776.2:n.922-116G>C
ENST00000393056.6:c.922-116G>C	ENSP00000376776.2:n.922-116G>C
NM_000787.3:c.922-116G>C	NP_000778.3:n.922-116G>C
NM_000787.4:c.922-116G>C MANE Select	NP_000778.3:n.922-116G>C