Canonical Allele Identifier: CA347665
Gene: DBH HGNC NCBI
DBH-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133657174A>G
GRCh37 chr9:g.136522296A>G
Revel Score:
ENST00000393056 (MANE Select) 0.692
gnomAD v2:
9:136522296 A / G
gnomAD v4:
chr9-133657174-A-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000201842
ClinVar Variation:
217766
dbSNP:
863225246
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133657174A>G , CM000671.2:g.133657174A>G GRCh38
NC_000009.11:g.136522296A>G , CM000671.1:g.136522296A>G GRCh37
NC_000009.10:g.135512117A>G NCBI36
NG_008645.1:g.25812A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.1667A>G (DBH) MANE Select ENSP00000376776.2:p.Tyr556Cys
ENST00000393056.6:c.1667A>G (DBH) ENSP00000376776.2:p.Tyr556Cys
NM_000787.3:c.1667A>G (DBH) NP_000778.3:p.Tyr556Cys
NR_102735.1:n.235T>C (DBH-AS1)
NM_000787.4:c.1667A>G (DBH) MANE Select NP_000778.3:p.Tyr556Cys
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