Canonical Allele Identifier: CA5312962

Gene: DBH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133636536G>A , CM000671.2:g.133636536G>A	GRCh38
NC_000009.11:g.136501658G>A , CM000671.1:g.136501658G>A	GRCh37
NC_000009.10:g.135491479G>A	NCBI36
NG_008645.1:g.5174G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000787.4:c.165G>A MANE Select	NP_000778.3:p.Pro55=
ENST00000393056.8:c.165G>A MANE Select	ENSP00000376776.2:p.Pro55=
NM_000787.3:c.165G>A	NP_000778.3:p.Pro55=
ENST00000263611.2:c.123G>A	ENSP00000263611.2:p.Pro41=
ENST00000263611.3:c.159G>A	ENSP00000263611.3:p.Pro53=
ENST00000393056.6:c.165G>A	ENSP00000376776.2:p.Pro55=