Canonical Allele Identifier: CA591067148

Gene: DBH

Linked Data

• dbSNP Id: rs1169789308
• gnomAD v2: 9-136509331-C-T
• gnomAD v4: 9-133644209-C-T
• MyVariant Identifiers: chr9:g.136509331C>T (hg19) ; chr9:g.133644209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644209C>T , CM000671.2:g.133644209C>T	GRCh38
NC_000009.11:g.136509331C>T , CM000671.1:g.136509331C>T	GRCh37
NC_000009.10:g.135499152C>T	NCBI36
NG_008645.1:g.12847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.922-9C>T MANE Select	ENSP00000376776.2:n.922-9C>T
ENST00000393056.6:c.922-9C>T	ENSP00000376776.2:n.922-9C>T
NM_000787.3:c.922-9C>T	NP_000778.3:n.922-9C>T
NM_000787.4:c.922-9C>T MANE Select	NP_000778.3:n.922-9C>T