Canonical Allele Identifier: CA5312984
Gene: DBH HGNC NCBI

Linked Data

dbSNP Id: rs78445536
ExAC: 9:136501746 G / C
gnomAD v2: 9-136501746-G-C
gnomAD v3: 9-133636624-G-C
gnomAD v4: 9-133636624-G-C
MyVariant Identifiers: chr9:g.136501746G>C (hg19) chr9:g.133636624G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133636624G>C , CM000671.2:g.133636624G>C GRCh38
NC_000009.11:g.136501746G>C , CM000671.1:g.136501746G>C GRCh37
NC_000009.10:g.135491567G>C NCBI36
NG_008645.1:g.5262G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263611.3:c.247G>C ENSP00000263611.3:p.Val83Leu
ENST00000393056.8:c.253G>C MANE Select ENSP00000376776.2:p.Val85Leu
ENST00000263611.2:c.211G>C ENSP00000263611.2:p.Val71Leu
ENST00000393056.6:c.253G>C ENSP00000376776.2:p.Val85Leu
NM_000787.3:c.253G>C NP_000778.3:p.Val85Leu
NM_000787.4:c.253G>C MANE Select NP_000778.3:p.Val85Leu
Search 100 bp 5'
Search 100 bp 3'