Canonical Allele Identifier: CA5312987
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 365634
ClinVar RCV Id: RCV000381846 RCV003422372 RCV003912568
dbSNP Id: rs3025380
ExAC: 9:136501756 G / C
gnomAD v2: 9-136501756-G-C
gnomAD v3: 9-133636634-G-C
gnomAD v4: 9-133636634-G-C
MyVariant Identifiers: chr9:g.136501756G>C (hg19) chr9:g.133636634G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133636634G>C , CM000671.2:g.133636634G>C GRCh38
NC_000009.11:g.136501756G>C , CM000671.1:g.136501756G>C GRCh37
NC_000009.10:g.135491577G>C NCBI36
NG_008645.1:g.5272G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263611.3:c.257G>C ENSP00000263611.3:p.Gly86Ala
ENST00000393056.8:c.263G>C MANE Select ENSP00000376776.2:p.Gly88Ala
ENST00000263611.2:c.221G>C ENSP00000263611.2:p.Gly74Ala
ENST00000393056.6:c.263G>C ENSP00000376776.2:p.Gly88Ala
NM_000787.3:c.263G>C NP_000778.3:p.Gly88Ala
NM_000787.4:c.263G>C MANE Select NP_000778.3:p.Gly88Ala
Search 100 bp 5'
Search 100 bp 3'