Canonical Allele Identifier: CA375415280
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644240C>G , CM000671.2:g.133644240C>G GRCh38
NC_000009.11:g.136509362C>G , CM000671.1:g.136509362C>G GRCh37
NC_000009.10:g.135499183C>G NCBI36
NG_008645.1:g.12878C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.944C>G MANE Select ENSP00000376776.2:p.Ala315Gly
ENST00000393056.6:c.944C>G ENSP00000376776.2:p.Ala315Gly
NM_000787.3:c.944C>G NP_000778.3:p.Ala315Gly
NM_000787.4:c.944C>G MANE Select NP_000778.3:p.Ala315Gly