Canonical Allele Identifier: CA375415144
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 2134288
ClinVar RCV Id: RCV003058084
dbSNP Id: rs1832155096
MyVariant Identifiers: chr9:g.136509341C>T (hg19) chr9:g.133644219C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644219C>T , CM000671.2:g.133644219C>T GRCh38
NC_000009.11:g.136509341C>T , CM000671.1:g.136509341C>T GRCh37
NC_000009.10:g.135499162C>T NCBI36
NG_008645.1:g.12857C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.923C>T MANE Select ENSP00000376776.2:p.Ala308Val
ENST00000393056.6:c.923C>T ENSP00000376776.2:p.Ala308Val
NM_000787.3:c.923C>T NP_000778.3:p.Ala308Val
NM_000787.4:c.923C>T MANE Select NP_000778.3:p.Ala308Val
Search 100 bp 5'
Search 100 bp 3'