Canonical Allele Identifier: CA5313041

Gene: DBH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133639860C>T , CM000671.2:g.133639860C>T	GRCh38
NC_000009.11:g.136504982C>T , CM000671.1:g.136504982C>T	GRCh37
NC_000009.10:g.135494803C>T	NCBI36
NG_008645.1:g.8498C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000787.4:c.354C>T MANE Select	NP_000778.3:p.Asp118=
ENST00000393056.8:c.354C>T MANE Select	ENSP00000376776.2:p.Asp118=
NM_000787.3:c.354C>T	NP_000778.3:p.Asp118=
ENST00000263611.2:c.298-2347C>T	ENSP00000263611.2:n.298-2347C>T
ENST00000263611.3:c.334-2347C>T	ENSP00000263611.3:n.334-2347C>T
ENST00000393056.6:c.354C>T	ENSP00000376776.2:p.Asp118=