Canonical Allele Identifier: CA5313259
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 912320
ClinVar RCV Id: RCV001165473
dbSNP Id: rs764045527
ExAC: 9:136509401 T / G
gnomAD v2: 9-136509401-T-G
gnomAD v3: 9-133644279-T-G
gnomAD v4: 9-133644279-T-G
MyVariant Identifiers: chr9:g.136509401T>G (hg19) chr9:g.133644279T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644279T>G , CM000671.2:g.133644279T>G GRCh38
NC_000009.11:g.136509401T>G , CM000671.1:g.136509401T>G GRCh37
NC_000009.10:g.135499222T>G NCBI36
NG_008645.1:g.12917T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.983T>G MANE Select ENSP00000376776.2:p.Leu328Arg
ENST00000393056.6:c.983T>G ENSP00000376776.2:p.Leu328Arg
NM_000787.3:c.983T>G NP_000778.3:p.Leu328Arg
NM_000787.4:c.983T>G MANE Select NP_000778.3:p.Leu328Arg
Search 100 bp 5'
Search 100 bp 3'