Canonical Allele Identifier: CA5312983
Gene: DBH HGNC NCBI

Linked Data

dbSNP Id: rs78445536
ExAC: 9:136501746 G / T
gnomAD v2: 9-136501746-G-T
gnomAD v3: 9-133636624-G-T
gnomAD v4: 9-133636624-G-T
COSMIC: COSM6182627
MyVariant Identifiers: chr9:g.136501746G>T (hg19) chr9:g.133636624G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133636624G>T , CM000671.2:g.133636624G>T GRCh38
NC_000009.11:g.136501746G>T , CM000671.1:g.136501746G>T GRCh37
NC_000009.10:g.135491567G>T NCBI36
NG_008645.1:g.5262G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263611.3:c.247G>T ENSP00000263611.3:p.Val83Phe
ENST00000393056.8:c.253G>T MANE Select ENSP00000376776.2:p.Val85Phe
ENST00000263611.2:c.211G>T ENSP00000263611.2:p.Val71Phe
ENST00000393056.6:c.253G>T ENSP00000376776.2:p.Val85Phe
NM_000787.3:c.253G>T NP_000778.3:p.Val85Phe
NM_000787.4:c.253G>T MANE Select NP_000778.3:p.Val85Phe
Search 100 bp 5'
Search 100 bp 3'