Canonical Allele Identifier: CA375415579
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644289A>C , CM000671.2:g.133644289A>C GRCh38
NC_000009.11:g.136509411A>C , CM000671.1:g.136509411A>C GRCh37
NC_000009.10:g.135499232A>C NCBI36
NG_008645.1:g.12927A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.993A>C MANE Select ENSP00000376776.2:p.Glu331Asp
ENST00000393056.6:c.993A>C ENSP00000376776.2:p.Glu331Asp
NM_000787.3:c.993A>C NP_000778.3:p.Glu331Asp
NM_000787.4:c.993A>C MANE Select NP_000778.3:p.Glu331Asp