Canonical Allele Identifier: CA10626766

Gene: DBH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133639913T>C , CM000671.2:g.133639913T>C	GRCh38
NC_000009.11:g.136505035T>C , CM000671.1:g.136505035T>C	GRCh37
NC_000009.10:g.135494856T>C	NCBI36
NG_008645.1:g.8551T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000787.4:c.407T>C MANE Select	NP_000778.3:p.Val136Ala
ENST00000393056.8:c.407T>C MANE Select	ENSP00000376776.2:p.Val136Ala
NM_000787.3:c.407T>C	NP_000778.3:p.Val136Ala
ENST00000263611.2:c.298-2294T>C	ENSP00000263611.2:n.298-2294T>C
ENST00000263611.3:c.334-2294T>C	ENSP00000263611.3:n.334-2294T>C
ENST00000393056.6:c.407T>C	ENSP00000376776.2:p.Val136Ala