Canonical Allele Identifier: CA5313211
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 365648
ClinVar RCV Id: RCV000326872
dbSNP Id: rs78200745

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133643517C>T , CM000671.2:g.133643517C>T GRCh38
NC_000009.11:g.136508639C>T , CM000671.1:g.136508639C>T GRCh37
NC_000009.10:g.135498460C>T NCBI36
NG_008645.1:g.12155C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263611.3:c.696C>T ENSP00000263611.3:p.Cys232=
ENST00000393056.8:c.849C>T MANE Select ENSP00000376776.2:p.Cys283=
ENST00000263611.2:c.660C>T ENSP00000263611.2:p.Cys220=
ENST00000393056.6:c.849C>T ENSP00000376776.2:p.Cys283=
NM_000787.3:c.849C>T NP_000778.3:p.Cys283=
NM_000787.4:c.849C>T MANE Select NP_000778.3:p.Cys283=