Canonical Allele Identifier: CA375415309
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644245C>G , CM000671.2:g.133644245C>G GRCh38
NC_000009.11:g.136509367C>G , CM000671.1:g.136509367C>G GRCh37
NC_000009.10:g.135499188C>G NCBI36
NG_008645.1:g.12883C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.949C>G MANE Select ENSP00000376776.2:p.Leu317Val
ENST00000393056.6:c.949C>G ENSP00000376776.2:p.Leu317Val
NM_000787.3:c.949C>G NP_000778.3:p.Leu317Val
NM_000787.4:c.949C>G MANE Select NP_000778.3:p.Leu317Val