Canonical Allele Identifier: CA5313145
Gene: DBH HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133642351G>A
GRCh37 chr9:g.136507473G>A
Revel Score:
ENST00000393056 (MANE Select) 0.023
ENST00000371880 0.023
ENST00000263611 0.023
gnomAD v2:
9:136507473 G / A
gnomAD v3:
9:133642351 G / A
gnomAD v4:
chr9-133642351-G-A
Joint Max Group AF 0.15347421 (AFR)
Genomes Max Group AF 0.15013991 (AFR)
Exomes Max Group AF 0.15543147 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133642351G>A , CM000671.2:g.133642351G>A GRCh38
NC_000009.11:g.136507473G>A , CM000671.1:g.136507473G>A GRCh37
NC_000009.10:g.135497294G>A NCBI36
NG_008645.1:g.10989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263611.3:c.478G>A ENSP00000263611.3:p.Ala160Thr
ENST00000393056.8:c.631G>A MANE Select ENSP00000376776.2:p.Ala211Thr
ENST00000263611.2:c.442G>A ENSP00000263611.2:p.Ala148Thr
ENST00000393056.6:c.631G>A ENSP00000376776.2:p.Ala211Thr
NM_000787.3:c.631G>A NP_000778.3:p.Ala211Thr
NM_000787.4:c.631G>A MANE Select NP_000778.3:p.Ala211Thr
Search 100 bp 5'
Search 100 bp 3'