Canonical Allele Identifier: CA5313625

Gene: DBH DBH-AS1

Linked Data

• ClinVar Variation Id: 365670
• ClinVar RCV Id: RCV000263473 ; RCV003972543 ; RCV003884514
• dbSNP Id: rs377563744
• ExAC: 9:136522228 G / A
• gnomAD v2: 9-136522228-G-A
• gnomAD v3: 9-133657106-G-A
• gnomAD v4: 9-133657106-G-A
• MyVariant Identifiers: chr9:g.136522228G>A (hg19) ; chr9:g.133657106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133657106G>A , CM000671.2:g.133657106G>A	GRCh38
NC_000009.11:g.136522228G>A , CM000671.1:g.136522228G>A	GRCh37
NC_000009.10:g.135512049G>A	NCBI36
NG_008645.1:g.25744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.1599G>A (DBH) MANE Select	ENSP00000376776.2:p.Ala533=
ENST00000393056.6:c.1599G>A (DBH)	ENSP00000376776.2:p.Ala533=
NM_000787.3:c.1599G>A (DBH)	NP_000778.3:p.Ala533=
NR_102735.1:n.282+21C>T (DBH-AS1)
NM_000787.4:c.1599G>A (DBH) MANE Select	NP_000778.3:p.Ala533=