Canonical Allele Identifier: CA5313258

Gene: DBH

Linked Data

• ClinVar Variation Id: 2084060
• ClinVar RCV Id: RCV002994514
• dbSNP Id: rs142042694
• ExAC: 9:136509399 T / C
• gnomAD v2: 9-136509399-T-C
• gnomAD v3: 9-133644277-T-C
• gnomAD v4: 9-133644277-T-C
• MyVariant Identifiers: chr9:g.136509399T>C (hg19) ; chr9:g.133644277T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644277T>C , CM000671.2:g.133644277T>C	GRCh38
NC_000009.11:g.136509399T>C , CM000671.1:g.136509399T>C	GRCh37
NC_000009.10:g.135499220T>C	NCBI36
NG_008645.1:g.12915T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.981T>C MANE Select	ENSP00000376776.2:p.Tyr327=
ENST00000393056.6:c.981T>C	ENSP00000376776.2:p.Tyr327=
NM_000787.3:c.981T>C	NP_000778.3:p.Tyr327=
NM_000787.4:c.981T>C MANE Select	NP_000778.3:p.Tyr327=