Canonical Allele Identifier: CA375415460
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644270C>T , CM000671.2:g.133644270C>T GRCh38
NC_000009.11:g.136509392C>T , CM000671.1:g.136509392C>T GRCh37
NC_000009.10:g.135499213C>T NCBI36
NG_008645.1:g.12908C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.974C>T MANE Select ENSP00000376776.2:p.Ser325Phe
ENST00000393056.6:c.974C>T ENSP00000376776.2:p.Ser325Phe
NM_000787.3:c.974C>T NP_000778.3:p.Ser325Phe
NM_000787.4:c.974C>T MANE Select NP_000778.3:p.Ser325Phe