Canonical Allele Identifier: CA200963860
Gene: DBH HGNC NCBI

Linked Data

dbSNP Id: rs5325
gnomAD v4: 9-133644246-T-C
MyVariant Identifiers: chr9:g.136509368T>C (hg19) chr9:g.133644246T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644246T>C , CM000671.2:g.133644246T>C GRCh38
NC_000009.11:g.136509368T>C , CM000671.1:g.136509368T>C GRCh37
NC_000009.10:g.135499189T>C NCBI36
NG_008645.1:g.12884T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.950T>C MANE Select ENSP00000376776.2:p.Leu317Pro
ENST00000393056.6:c.950T>C ENSP00000376776.2:p.Leu317Pro
NM_000787.3:c.950T>C NP_000778.3:p.Leu317Pro
NM_000787.4:c.950T>C MANE Select NP_000778.3:p.Leu317Pro
Search 100 bp 5'
Search 100 bp 3'