Canonical Allele Identifier: CA5313250
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 835077
ClinVar RCV Id: RCV001035885
dbSNP Id: rs755133909
ExAC: 9:136509364 G / A
gnomAD v2: 9-136509364-G-A
gnomAD v3: 9-133644242-G-A
gnomAD v4: 9-133644242-G-A
MyVariant Identifiers: chr9:g.136509364G>A (hg19) chr9:g.133644242G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644242G>A , CM000671.2:g.133644242G>A GRCh38
NC_000009.11:g.136509364G>A , CM000671.1:g.136509364G>A GRCh37
NC_000009.10:g.135499185G>A NCBI36
NG_008645.1:g.12880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.946G>A MANE Select ENSP00000376776.2:p.Gly316Ser
ENST00000393056.6:c.946G>A ENSP00000376776.2:p.Gly316Ser
NM_000787.3:c.946G>A NP_000778.3:p.Gly316Ser
NM_000787.4:c.946G>A MANE Select NP_000778.3:p.Gly316Ser
Search 100 bp 5'
Search 100 bp 3'