Canonical Allele Identifier: CA375415242

Gene: DBH

Linked Data

• MyVariant Identifiers: chr9:g.136509356A>C (hg19) ; chr9:g.133644234A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644234A>C , CM000671.2:g.133644234A>C	GRCh38
NC_000009.11:g.136509356A>C , CM000671.1:g.136509356A>C	GRCh37
NC_000009.10:g.135499177A>C	NCBI36
NG_008645.1:g.12872A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.938A>C MANE Select	ENSP00000376776.2:p.Glu313Ala
ENST00000393056.6:c.938A>C	ENSP00000376776.2:p.Glu313Ala
NM_000787.3:c.938A>C	NP_000778.3:p.Glu313Ala
NM_000787.4:c.938A>C MANE Select	NP_000778.3:p.Glu313Ala