Canonical Allele Identifier: CA375415596
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644291T>C , CM000671.2:g.133644291T>C GRCh38
NC_000009.11:g.136509413T>C , CM000671.1:g.136509413T>C GRCh37
NC_000009.10:g.135499234T>C NCBI36
NG_008645.1:g.12929T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.995T>C MANE Select ENSP00000376776.2:p.Val332Ala
ENST00000393056.6:c.995T>C ENSP00000376776.2:p.Val332Ala
NM_000787.3:c.995T>C NP_000778.3:p.Val332Ala
NM_000787.4:c.995T>C MANE Select NP_000778.3:p.Val332Ala