Canonical Allele Identifier: CA339912

Gene: DBH

Linked Data

• ClinVar Variation Id: 1750
• ClinVar RCV Id: RCV000001820 ; RCV000486465
• dbSNP Id: rs74853476
• ExAC: 9:136501834 T / C
• gnomAD v2: 9-136501834-T-C
• gnomAD v3: 9-133636712-T-C
• gnomAD v4: 9-133636712-T-C
• MyVariant Identifiers: chr9:g.136501834T>C (hg19) ; chr9:g.133636712T>C (hg38)
• PubMed: PMID:11857564 ; PMID:14598346 ; PMID:15060114 ; PMID:20301647 ; PMID:21209083

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133636712T>C , CM000671.2:g.133636712T>C	GRCh38
NC_000009.11:g.136501834T>C , CM000671.1:g.136501834T>C	GRCh37
NC_000009.10:g.135491655T>C	NCBI36
NG_008645.1:g.5350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263611.3:c.333+2T>C	ENSP00000263611.3:n.333+2T>C
ENST00000393056.8:c.339+2T>C MANE Select	ENSP00000376776.2:n.339+2T>C
ENST00000263611.2:c.297+2T>C	ENSP00000263611.2:n.297+2T>C
ENST00000393056.6:c.339+2T>C	ENSP00000376776.2:n.339+2T>C
NM_000787.3:c.339+2T>C	NP_000778.3:n.339+2T>C
NM_000787.4:c.339+2T>C MANE Select	NP_000778.3:n.339+2T>C