Canonical Allele Identifier: CA375415552

Gene: DBH

Linked Data

• dbSNP Id: rs1588348769
• MyVariant Identifiers: chr9:g.136509406C>G (hg19) ; chr9:g.133644284C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.988C>G MANE Select	ENSP00000376776.2:p.Leu330Val
ENST00000393056.6:c.988C>G	ENSP00000376776.2:p.Leu330Val
NM_000787.3:c.988C>G	NP_000778.3:p.Leu330Val
NM_000787.4:c.988C>G MANE Select	NP_000778.3:p.Leu330Val