Canonical Allele Identifier: CA1882783613
Community Standard Title: NM_000787.4(DBH):c.1645C= (p.Arg549=)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133657152C= , CM000671.2:g.133657152C= GRCh38
NC_000009.11:g.136522274C= , CM000671.1:g.136522274C= GRCh37
NC_000009.10:g.135512095C= NCBI36
NG_008645.1:g.25790C=

Transcript Alleles

HGVS Amino-acid Change
NM_000787.4:c.1645C= (DBH) MANE Select NP_000778.3:p.Arg549=
ENST00000393056.8:c.1645C= (DBH) MANE Select ENSP00000376776.2:p.Arg549=
NM_000787.3:c.1645C= (DBH) NP_000778.3:p.Arg549=
NR_102735.1:n.257G= (DBH-AS1)
ENST00000393056.6:c.1645C= (DBH) ENSP00000376776.2:p.Arg549=