Canonical Allele Identifier: CA375415309

Gene: DBH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.949C>G MANE Select	ENSP00000376776.2:p.Leu317Val
ENST00000393056.6:c.949C>G	ENSP00000376776.2:p.Leu317Val
NM_000787.3:c.949C>G	NP_000778.3:p.Leu317Val
NM_000787.4:c.949C>G MANE Select	NP_000778.3:p.Leu317Val