Canonical Allele Identifier: CA375415680
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644304C>A , CM000671.2:g.133644304C>A GRCh38
NC_000009.11:g.136509426C>A , CM000671.1:g.136509426C>A GRCh37
NC_000009.10:g.135499247C>A NCBI36
NG_008645.1:g.12942C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.1008C>A MANE Select ENSP00000376776.2:p.Asn336Lys
ENST00000393056.6:c.1008C>A ENSP00000376776.2:p.Asn336Lys
NM_000787.3:c.1008C>A NP_000778.3:p.Asn336Lys
NM_000787.4:c.1008C>A MANE Select NP_000778.3:p.Asn336Lys