Canonical Allele Identifier: CA591067142
Gene: DBH HGNC NCBI

Linked Data

dbSNP Id: rs1250334443
gnomAD v2: 9-136509304-GAC-G
gnomAD v4: 9-133644182-GAC-G
MyVariant Identifiers: chr9:g.136509305_136509306del (hg19) chr9:g.133644183_133644184del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644187_133644188del , CM000671.2:g.133644187_133644188del GRCh38
NC_000009.11:g.136509309_136509310del , CM000671.1:g.136509309_136509310del GRCh37
NC_000009.10:g.135499130_135499131del NCBI36
NG_008645.1:g.12825_12826del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.922-31_922-30del MANE Select ENSP00000376776.2:n.922-31_922-30del
ENST00000393056.6:c.922-31_922-30del ENSP00000376776.2:n.922-31_922-30del
NM_000787.3:c.922-31_922-30del NP_000778.3:n.922-31_922-30del
NM_000787.4:c.922-31_922-30del MANE Select NP_000778.3:n.922-31_922-30del
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