Canonical Allele Identifier: CA375415591
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644290G>A , CM000671.2:g.133644290G>A GRCh38
NC_000009.11:g.136509412G>A , CM000671.1:g.136509412G>A GRCh37
NC_000009.10:g.135499233G>A NCBI36
NG_008645.1:g.12928G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.994G>A MANE Select ENSP00000376776.2:p.Val332Ile
ENST00000393056.6:c.994G>A ENSP00000376776.2:p.Val332Ile
NM_000787.3:c.994G>A NP_000778.3:p.Val332Ile
NM_000787.4:c.994G>A MANE Select NP_000778.3:p.Val332Ile