Canonical Allele Identifier: CA1129759582
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 1556262
ClinVar RCV Id: RCV002187779
dbSNP Id: rs1832154812
gnomAD v3: 9-133644200-A-C
gnomAD v4: 9-133644200-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644200A>C , CM000671.2:g.133644200A>C GRCh38
NC_000009.11:g.136509322A>C , CM000671.1:g.136509322A>C GRCh37
NC_000009.10:g.135499143A>C NCBI36
NG_008645.1:g.12838A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.922-18A>C MANE Select ENSP00000376776.2:n.922-18A>C
ENST00000393056.6:c.922-18A>C ENSP00000376776.2:n.922-18A>C
NM_000787.3:c.922-18A>C NP_000778.3:n.922-18A>C
NM_000787.4:c.922-18A>C MANE Select NP_000778.3:n.922-18A>C
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