Canonical Allele Identifier: CA2579501877
Gene: DBH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644257_133644258dup , CM000671.2:g.133644257_133644258dup GRCh38
NC_000009.11:g.136509379_136509380dup , CM000671.1:g.136509379_136509380dup GRCh37
NC_000009.10:g.135499200_135499201dup NCBI36
NG_008645.1:g.12895_12896dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.961_962dup MANE Select ENSP00000376776.2:p.Pro322ValfsTer19
ENST00000393056.6:c.961_962dup ENSP00000376776.2:p.Pro322ValfsTer19
NM_000787.3:c.961_962dup NP_000778.3:p.Pro322ValfsTer19
NM_000787.4:c.961_962dup MANE Select NP_000778.3:p.Pro322ValfsTer19