Canonical Allele Identifier: CA375415478

Gene: DBH

Linked Data

• COSMIC: COSM280301
• MyVariant Identifiers: chr9:g.136509395G>T (hg19) ; chr9:g.133644273G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644273G>T , CM000671.2:g.133644273G>T	GRCh38
NC_000009.11:g.136509395G>T , CM000671.1:g.136509395G>T	GRCh37
NC_000009.10:g.135499216G>T	NCBI36
NG_008645.1:g.12911G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.977G>T MANE Select	ENSP00000376776.2:p.Arg326Ile
ENST00000393056.6:c.977G>T	ENSP00000376776.2:p.Arg326Ile
NM_000787.3:c.977G>T	NP_000778.3:p.Arg326Ile
NM_000787.4:c.977G>T MANE Select	NP_000778.3:p.Arg326Ile