Canonical Allele Identifier: CA375415249
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644235G>T , CM000671.2:g.133644235G>T GRCh38
NC_000009.11:g.136509357G>T , CM000671.1:g.136509357G>T GRCh37
NC_000009.10:g.135499178G>T NCBI36
NG_008645.1:g.12873G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.939G>T MANE Select ENSP00000376776.2:p.Glu313Asp
ENST00000393056.6:c.939G>T ENSP00000376776.2:p.Glu313Asp
NM_000787.3:c.939G>T NP_000778.3:p.Glu313Asp
NM_000787.4:c.939G>T MANE Select NP_000778.3:p.Glu313Asp