Canonical Allele Identifier: CA591067145

Gene: DBH

Linked Data

• dbSNP Id: rs1564209862
• gnomAD v2: 9-136509310-CCCGT-C
• gnomAD v3: 9-133644188-CCCGT-C
• gnomAD v4: 9-133644188-CCCGT-C
• MyVariant Identifiers: chr9:g.136509311_136509314del (hg19) ; chr9:g.133644189_133644192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644190_133644193del , CM000671.2:g.133644190_133644193del	GRCh38
NC_000009.11:g.136509312_136509315del , CM000671.1:g.136509312_136509315del	GRCh37
NC_000009.10:g.135499133_135499136del	NCBI36
NG_008645.1:g.12828_12831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.922-28_922-25del MANE Select	ENSP00000376776.2:n.922-28_922-25del
ENST00000393056.6:c.922-28_922-25del	ENSP00000376776.2:n.922-28_922-25del
NM_000787.3:c.922-28_922-25del	NP_000778.3:n.922-28_922-25del
NM_000787.4:c.922-28_922-25del MANE Select	NP_000778.3:n.922-28_922-25del