Canonical Allele Identifier: CA2499219747
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 1140092
ClinVar RCV Id: RCV001477048
dbSNP Id: rs2131286242

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644211C>T , CM000671.2:g.133644211C>T GRCh38
NC_000009.11:g.136509333C>T , CM000671.1:g.136509333C>T GRCh37
NC_000009.10:g.135499154C>T NCBI36
NG_008645.1:g.12849C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.922-7C>T MANE Select ENSP00000376776.2:n.922-7C>T
ENST00000393056.6:c.922-7C>T ENSP00000376776.2:n.922-7C>T
NM_000787.3:c.922-7C>T NP_000778.3:n.922-7C>T
NM_000787.4:c.922-7C>T MANE Select NP_000778.3:n.922-7C>T