Canonical Allele Identifier: CA375415306

Gene: DBH

Linked Data

• MyVariant Identifiers: chr9:g.136509367C>A (hg19) ; chr9:g.133644245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644245C>A , CM000671.2:g.133644245C>A	GRCh38
NC_000009.11:g.136509367C>A , CM000671.1:g.136509367C>A	GRCh37
NC_000009.10:g.135499188C>A	NCBI36
NG_008645.1:g.12883C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.949C>A MANE Select	ENSP00000376776.2:p.Leu317Ile
ENST00000393056.6:c.949C>A	ENSP00000376776.2:p.Leu317Ile
NM_000787.3:c.949C>A	NP_000778.3:p.Leu317Ile
NM_000787.4:c.949C>A MANE Select	NP_000778.3:p.Leu317Ile