Canonical Allele Identifier: CA5313625
Community Standard Title: NM_000787.4(DBH):c.1599G>A (p.Ala533=)
Gene: DBH HGNC NCBI
DBH-AS1 HGNC NCBI
JSON-LD

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
NM_000787.4:c.1599G>A (DBH) MANE Select NP_000778.3:p.Ala533=
ENST00000393056.8:c.1599G>A (DBH) MANE Select 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)
ENST00000393056.6:c.1599G>A (DBH) ENSP00000376776.2:p.Ala533=
Search 100 bp 5'
Search 100 bp 3'