Canonical Allele Identifier: CA375415167

Gene: DBH

Linked Data

• gnomAD v4: 9-133644224-T-A
• MyVariant Identifiers: chr9:g.136509346T>A (hg19) ; chr9:g.133644224T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644224T>A , CM000671.2:g.133644224T>A	GRCh38
NC_000009.11:g.136509346T>A , CM000671.1:g.136509346T>A	GRCh37
NC_000009.10:g.135499167T>A	NCBI36
NG_008645.1:g.12862T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.928T>A MANE Select	ENSP00000376776.2:p.Tyr310Asn
ENST00000393056.6:c.928T>A	ENSP00000376776.2:p.Tyr310Asn
NM_000787.3:c.928T>A	NP_000778.3:p.Tyr310Asn
NM_000787.4:c.928T>A MANE Select	NP_000778.3:p.Tyr310Asn