Canonical Allele Identifier: CA5313146

Gene: DBH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133642352C>T , CM000671.2:g.133642352C>T	GRCh38
NC_000009.11:g.136507474C>T , CM000671.1:g.136507474C>T	GRCh37
NC_000009.10:g.135497295C>T	NCBI36
NG_008645.1:g.10990C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000787.4:c.632C>T MANE Select	NP_000778.3:p.Ala211Val
ENST00000393056.8:c.632C>T MANE Select	ENSP00000376776.2:p.Ala211Val
NM_000787.3:c.632C>T	NP_000778.3:p.Ala211Val
ENST00000263611.2:c.443C>T	ENSP00000263611.2:p.Ala148Val
ENST00000263611.3:c.479C>T	ENSP00000263611.3:p.Ala160Val
ENST00000393056.6:c.632C>T	ENSP00000376776.2:p.Ala211Val