Canonical Allele Identifier: CA1882783639
Community Standard Title: NM_000787.4(DBH):c.1667A= (p.Tyr556=)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133657174A= , CM000671.2:g.133657174A= GRCh38
NC_000009.11:g.136522296A= , CM000671.1:g.136522296A= GRCh37
NC_000009.10:g.135512117A= NCBI36
NG_008645.1:g.25812A=

Transcript Alleles

HGVS Amino-acid Change
NM_000787.4:c.1667A= (DBH) MANE Select NP_000778.3:p.Tyr556=
ENST00000393056.8:c.1667A= (DBH) MANE Select ENSP00000376776.2:p.Tyr556=
NM_000787.3:c.1667A= (DBH) NP_000778.3:p.Tyr556=
NR_102735.1:n.235T= (DBH-AS1)
ENST00000393056.6:c.1667A= (DBH) ENSP00000376776.2:p.Tyr556=