Canonical Allele Identifier: CA5313260
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 773786
ClinVar RCV Id: RCV002066330 RCV003895770
dbSNP Id: rs201128036
ExAC: 9:136509403 C / T
gnomAD v2: 9-136509403-C-T
gnomAD v3: 9-133644281-C-T
gnomAD v4: 9-133644281-C-T
COSMIC: COSM3847980
MyVariant Identifiers: chr9:g.136509403C>T (hg19) chr9:g.133644281C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644281C>T , CM000671.2:g.133644281C>T GRCh38
NC_000009.11:g.136509403C>T , CM000671.1:g.136509403C>T GRCh37
NC_000009.10:g.135499224C>T NCBI36
NG_008645.1:g.12919C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.985C>T MANE Select ENSP00000376776.2:p.Arg329Cys
ENST00000393056.6:c.985C>T ENSP00000376776.2:p.Arg329Cys
NM_000787.3:c.985C>T NP_000778.3:p.Arg329Cys
NM_000787.4:c.985C>T MANE Select NP_000778.3:p.Arg329Cys
Search 100 bp 5'
Search 100 bp 3'