Canonical Allele Identifier: CA375415306
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.949C>A MANE Select ENSP00000376776.2:p.Leu317Ile
ENST00000393056.6:c.949C>A ENSP00000376776.2:p.Leu317Ile
NM_000787.3:c.949C>A NP_000778.3:p.Leu317Ile
NM_000787.4:c.949C>A MANE Select NP_000778.3:p.Leu317Ile