Canonical Allele Identifier: CA5313546

Gene: DBH DBH-AS1

Linked Data

• ClinVar Variation Id: 529773
• ClinVar RCV Id: RCV000635253 ; RCV003905708 ; RCV003151800
• dbSNP Id: rs41316996
• ExAC: 9:136521654 G / A
• gnomAD v2: 9-136521654-G-A
• gnomAD v3: 9-133656532-G-A
• gnomAD v4: 9-133656532-G-A
• MyVariant Identifiers: chr9:g.136521654G>A (hg19) ; chr9:g.133656532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133656532G>A , CM000671.2:g.133656532G>A	GRCh38
NC_000009.11:g.136521654G>A , CM000671.1:g.136521654G>A	GRCh37
NC_000009.10:g.135511475G>A	NCBI36
NG_008645.1:g.25170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.1444G>A (DBH) MANE Select	ENSP00000376776.2:p.Gly482Arg
ENST00000393056.6:c.1444G>A (DBH)	ENSP00000376776.2:p.Gly482Arg
NM_000787.3:c.1444G>A (DBH)	NP_000778.3:p.Gly482Arg
NR_102735.1:n.288C>T (DBH-AS1)
NM_000787.4:c.1444G>A (DBH) MANE Select	NP_000778.3:p.Gly482Arg