Canonical Allele Identifier: CA375415543
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 2531402
ClinVar RCV Id: RCV003275826
gnomAD v4: 9-133644282-G-A
MyVariant Identifiers: chr9:g.136509404G>A (hg19) chr9:g.133644282G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644282G>A , CM000671.2:g.133644282G>A GRCh38
NC_000009.11:g.136509404G>A , CM000671.1:g.136509404G>A GRCh37
NC_000009.10:g.135499225G>A NCBI36
NG_008645.1:g.12920G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.986G>A MANE Select ENSP00000376776.2:p.Arg329His
ENST00000393056.6:c.986G>A ENSP00000376776.2:p.Arg329His
NM_000787.3:c.986G>A NP_000778.3:p.Arg329His
NM_000787.4:c.986G>A MANE Select NP_000778.3:p.Arg329His
Search 100 bp 5'
Search 100 bp 3'