Canonical Allele Identifier: CA467613748
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 1610188
ClinVar RCV Id: RCV002152998
dbSNP Id: rs2131286249
MyVariant Identifiers: chr9:g.136509345T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644223T>C , CM000671.2:g.133644223T>C GRCh38
NC_000009.11:g.136509345T>C , CM000671.1:g.136509345T>C GRCh37
NC_000009.10:g.135499166T>C NCBI36
NG_008645.1:g.12861T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.927T>C MANE Select ENSP00000376776.2:p.Phe309=
ENST00000393056.6:c.927T>C ENSP00000376776.2:p.Phe309=
NM_000787.3:c.927T>C NP_000778.3:p.Phe309=
NM_000787.4:c.927T>C MANE Select NP_000778.3:p.Phe309=
Search 100 bp 5'
Search 100 bp 3'