Canonical Allele Identifier: CA591066591

Gene: DBH

Linked Data

• dbSNP Id: rs1449036564
• gnomAD v2: 9-136501855-C-G
• MyVariant Identifiers: chr9:g.136501855C>G (hg19) ; chr9:g.133636733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133636733C>G , CM000671.2:g.133636733C>G	GRCh38
NC_000009.11:g.136501855C>G , CM000671.1:g.136501855C>G	GRCh37
NC_000009.10:g.135491676C>G	NCBI36
NG_008645.1:g.5371C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263611.3:c.333+23C>G	ENSP00000263611.3:n.333+23C>G
ENST00000393056.8:c.339+23C>G MANE Select	ENSP00000376776.2:n.339+23C>G
ENST00000263611.2:c.297+23C>G	ENSP00000263611.2:n.297+23C>G
ENST00000393056.6:c.339+23C>G	ENSP00000376776.2:n.339+23C>G
NM_000787.3:c.339+23C>G	NP_000778.3:n.339+23C>G
NM_000787.4:c.339+23C>G MANE Select	NP_000778.3:n.339+23C>G