Canonical Allele Identifier: CA5313242
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 1246402
ClinVar RCV Id: RCV001654494 RCV001658374
dbSNP Id: rs1611125
ExAC: 9:136509312 C / T
gnomAD v2: 9-136509312-C-T
gnomAD v3: 9-133644190-C-T
gnomAD v4: 9-133644190-C-T
COSMIC: COSN8811001
MyVariant Identifiers: chr9:g.136509312C>T (hg19) chr9:g.133644190C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644190C>T , CM000671.2:g.133644190C>T GRCh38
NC_000009.11:g.136509312C>T , CM000671.1:g.136509312C>T GRCh37
NC_000009.10:g.135499133C>T NCBI36
NG_008645.1:g.12828C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.922-28C>T MANE Select ENSP00000376776.2:n.922-28C>T
ENST00000393056.6:c.922-28C>T ENSP00000376776.2:n.922-28C>T
NM_000787.3:c.922-28C>T NP_000778.3:n.922-28C>T
NM_000787.4:c.922-28C>T MANE Select NP_000778.3:n.922-28C>T
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