Canonical Allele Identifier: CA347623

Gene: DBH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133636672G>A , CM000671.2:g.133636672G>A	GRCh38
NC_000009.11:g.136501794G>A , CM000671.1:g.136501794G>A	GRCh37
NC_000009.10:g.135491615G>A	NCBI36
NG_008645.1:g.5310G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000787.4:c.301G>A MANE Select	NP_000778.3:p.Val101Met
ENST00000393056.8:c.301G>A MANE Select	ENSP00000376776.2:p.Val101Met
NM_000787.3:c.301G>A	NP_000778.3:p.Val101Met
ENST00000263611.2:c.259G>A	ENSP00000263611.2:p.Val87Met
ENST00000263611.3:c.295G>A	ENSP00000263611.3:p.Val99Met
ENST00000393056.6:c.301G>A	ENSP00000376776.2:p.Val101Met