Canonical Allele Identifier: CA375415551

Gene: DBH

Linked Data

• MyVariant Identifiers: chr9:g.136509406C>A (hg19) ; chr9:g.133644284C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644284C>A , CM000671.2:g.133644284C>A	GRCh38
NC_000009.11:g.136509406C>A , CM000671.1:g.136509406C>A	GRCh37
NC_000009.10:g.135499227C>A	NCBI36
NG_008645.1:g.12922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.988C>A MANE Select	ENSP00000376776.2:p.Leu330Met
ENST00000393056.6:c.988C>A	ENSP00000376776.2:p.Leu330Met
NM_000787.3:c.988C>A	NP_000778.3:p.Leu330Met
NM_000787.4:c.988C>A MANE Select	NP_000778.3:p.Leu330Met