Canonical Allele Identifier: CA375415676

Gene: DBH

Linked Data

• dbSNP Id: rs1462229818
• gnomAD v2: 9-136509425-A-G
• gnomAD v4: 9-133644303-A-G
• MyVariant Identifiers: chr9:g.136509425A>G (hg19) ; chr9:g.133644303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644303A>G , CM000671.2:g.133644303A>G	GRCh38
NC_000009.11:g.136509425A>G , CM000671.1:g.136509425A>G	GRCh37
NC_000009.10:g.135499246A>G	NCBI36
NG_008645.1:g.12941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.1007A>G MANE Select	ENSP00000376776.2:p.Asn336Ser
ENST00000393056.6:c.1007A>G	ENSP00000376776.2:p.Asn336Ser
NM_000787.3:c.1007A>G	NP_000778.3:p.Asn336Ser
NM_000787.4:c.1007A>G MANE Select	NP_000778.3:p.Asn336Ser