Canonical Allele Identifier: CA359060921
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2004513
ClinVar RCV Id: RCV002828294
gnomAD v4: 5-1432624-G-A
MyVariant Identifiers: chr5:g.1432739G>A (hg19) chr5:g.1432624G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432624G>A , CM000667.2:g.1432624G>A GRCh38
NC_000005.9:g.1432739G>A , CM000667.1:g.1432739G>A GRCh37
NC_000005.8:g.1485739G>A NCBI36
NG_015885.1:g.17805C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.493C>T MANE Select ENSP00000270349.9:p.His165Tyr
ENST00000270349.11:c.493C>T ENSP00000270349.9:p.His165Tyr
NM_001044.4:c.493C>T NP_001035.1:p.His165Tyr
NM_001044.5:c.493C>T MANE Select NP_001035.1:p.His165Tyr
Search 100 bp 5'
Search 100 bp 3'