Canonical Allele Identifier: CA5313255
Gene: DBH HGNC NCBI

Linked Data

dbSNP Id: rs368420701
ExAC: 9:136509375 C / T
gnomAD v2: 9-136509375-C-T
gnomAD v3: 9-133644253-C-T
gnomAD v4: 9-133644253-C-T
MyVariant Identifiers: chr9:g.136509375C>T (hg19) chr9:g.133644253C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644253C>T , CM000671.2:g.133644253C>T GRCh38
NC_000009.11:g.136509375C>T , CM000671.1:g.136509375C>T GRCh37
NC_000009.10:g.135499196C>T NCBI36
NG_008645.1:g.12891C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.957C>T MANE Select ENSP00000376776.2:p.Phe319=
ENST00000393056.6:c.957C>T ENSP00000376776.2:p.Phe319=
NM_000787.3:c.957C>T NP_000778.3:p.Phe319=
NM_000787.4:c.957C>T MANE Select NP_000778.3:p.Phe319=
Search 100 bp 5'
Search 100 bp 3'