Canonical Allele Identifier: CA5313257
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 2547178
ClinVar RCV Id: RCV003277140
dbSNP Id: rs775370876
ExAC: 9:136509386 G / T
gnomAD v2: 9-136509386-G-T
gnomAD v4: 9-133644264-G-T
MyVariant Identifiers: chr9:g.136509386G>T (hg19) chr9:g.133644264G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644264G>T , CM000671.2:g.133644264G>T GRCh38
NC_000009.11:g.136509386G>T , CM000671.1:g.136509386G>T GRCh37
NC_000009.10:g.135499207G>T NCBI36
NG_008645.1:g.12902G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.968G>T MANE Select ENSP00000376776.2:p.Gly323Val
ENST00000393056.6:c.968G>T ENSP00000376776.2:p.Gly323Val
NM_000787.3:c.968G>T NP_000778.3:p.Gly323Val
NM_000787.4:c.968G>T MANE Select NP_000778.3:p.Gly323Val
Search 100 bp 5'
Search 100 bp 3'