Canonical Allele Identifier: CA375415439
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644267C>A , CM000671.2:g.133644267C>A GRCh38
NC_000009.11:g.136509389C>A , CM000671.1:g.136509389C>A GRCh37
NC_000009.10:g.135499210C>A NCBI36
NG_008645.1:g.12905C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.971C>A MANE Select ENSP00000376776.2:p.Ser324Tyr
ENST00000393056.6:c.971C>A ENSP00000376776.2:p.Ser324Tyr
NM_000787.3:c.971C>A NP_000778.3:p.Ser324Tyr
NM_000787.4:c.971C>A MANE Select NP_000778.3:p.Ser324Tyr