Canonical Allele Identifier: CA5313252
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 365652
ClinVar RCV Id: RCV000387809 RCV001643107 RCV003972541
dbSNP Id: rs4531
ExAC: 9:136509370 G / T
gnomAD v2: 9-136509370-G-T
gnomAD v3: 9-133644248-G-T
gnomAD v4: 9-133644248-G-T
MyVariant Identifiers: chr9:g.136509370G>T (hg19) chr9:g.133644248G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644248G>T , CM000671.2:g.133644248G>T GRCh38
NC_000009.11:g.136509370G>T , CM000671.1:g.136509370G>T GRCh37
NC_000009.10:g.135499191G>T NCBI36
NG_008645.1:g.12886G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.952G>T MANE Select ENSP00000376776.2:p.Ala318Ser
ENST00000393056.6:c.952G>T ENSP00000376776.2:p.Ala318Ser
NM_000787.3:c.952G>T NP_000778.3:p.Ala318Ser
NM_000787.4:c.952G>T MANE Select NP_000778.3:p.Ala318Ser
Search 100 bp 5'
Search 100 bp 3'