Canonical Allele Identifier: CA5313288

Gene: DBH

Linked Data

• ClinVar Variation Id: 365655
• ClinVar RCV Id: RCV000374973 ; RCV000437872
• dbSNP Id: rs199926239
• ExAC: 9:136512962 T / A
• gnomAD v2: 9-136512962-T-A
• gnomAD v3: 9-133647840-T-A
• gnomAD v4: 9-133647840-T-A
• MyVariant Identifiers: chr9:g.136512962T>A (hg19) ; chr9:g.133647840T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133647840T>A , CM000671.2:g.133647840T>A	GRCh38
NC_000009.11:g.136512962T>A , CM000671.1:g.136512962T>A	GRCh37
NC_000009.10:g.135502783T>A	NCBI36
NG_008645.1:g.16478T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.1025-6T>A MANE Select	ENSP00000376776.2:n.1025-6T>A
ENST00000393056.6:c.1025-6T>A	ENSP00000376776.2:n.1025-6T>A
NM_000787.3:c.1025-6T>A	NP_000778.3:n.1025-6T>A
NM_000787.4:c.1025-6T>A MANE Select	NP_000778.3:n.1025-6T>A