Canonical Allele Identifier: CA083518
Community Standard Title: NM_000787.4(DBH):c.[301G>A;1033G>A] (p.[Val101Met;Asp345Asn])
Gene: DBH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.[133636672G>A;133647854G>A] , CM000671.2:g.[133636672G>A;133647854G>A] GRCh38
NC_000009.11:g.[136501794G>A;136512976G>A] , CM000671.1:g.[136501794G>A;136512976G>A] GRCh37
NC_000009.10:g.[135491615G>A;135502797G>A] NCBI36
NG_008645.1:g.[5310G>A;16492G>A]

Transcript Alleles

HGVS Amino-acid Change
NM_000787.4:c.[301G>A;1033G>A] MANE Select NP_000778.3:p.[Val101Met;Asp345Asn]
ENST00000393056.8:c.[301G>A;1033G>A] MANE Select ENSP00000376776.2:p.[Val101Met;Asp345Asn]
NM_000787.3:c.[301G>A;1033G>A] NP_000778.3:p.[Val101Met;Asp345Asn]
ENST00000393056.6:c.[301G>A;1033G>A] ENSP00000376776.2:p.[Val101Met;Asp345Asn]
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