Canonical Allele Identifier: CA5313039
Gene: DBH HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133639848C>T
GRCh37 chr9:g.136504970C>T
gnomAD v2:
9:136504970 C / T
gnomAD v3:
9:133639848 C / T
gnomAD v4:
chr9-133639848-C-T
Joint Max Group AF 0.0001947 (AMR)
Genomes Max Group AF 0.00026003 (AMR)
Exomes Max Group AF 0.00012138 (AMR)
ClinVar RCV:
RCV002999663
ClinVar Variation:
2083122
dbSNP:
77576840
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133639848C>T , CM000671.2:g.133639848C>T GRCh38
NC_000009.11:g.136504970C>T , CM000671.1:g.136504970C>T GRCh37
NC_000009.10:g.135494791C>T NCBI36
NG_008645.1:g.8486C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263611.3:c.334-2359C>T ENSP00000263611.3:n.334-2359C>T
ENST00000393056.8:c.342C>T MANE Select ENSP00000376776.2:p.Asp114=
ENST00000263611.2:c.298-2359C>T ENSP00000263611.2:n.298-2359C>T
ENST00000393056.6:c.342C>T ENSP00000376776.2:p.Asp114=
NM_000787.3:c.342C>T NP_000778.3:p.Asp114=
NM_000787.4:c.342C>T MANE Select NP_000778.3:p.Asp114=
Search 100 bp 5'
Search 100 bp 3'