Canonical Allele Identifier: CA5313540
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133656505G>A , CM000671.2:g.133656505G>A GRCh38
NC_000009.11:g.136521627G>A , CM000671.1:g.136521627G>A GRCh37
NC_000009.10:g.135511448G>A NCBI36
NG_008645.1:g.25143G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.1435-18G>A (DBH) MANE Select ENSP00000376776.2:n.1435-18G>A
ENST00000393056.6:c.1435-18G>A (DBH) ENSP00000376776.2:n.1435-18G>A
NM_000787.3:c.1435-18G>A (DBH) NP_000778.3:n.1435-18G>A
NR_102735.1:n.315C>T (DBH-AS1)
NM_000787.4:c.1435-18G>A (DBH) MANE Select NP_000778.3:n.1435-18G>A