Canonical Allele Identifier: CA359083165
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2167227
ClinVar RCV Id: RCV003092067
gnomAD v4: 5-1414760-C-G
MyVariant Identifiers: chr5:g.1414875C>G (hg19) chr5:g.1414760C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414760C>G , CM000667.2:g.1414760C>G GRCh38
NC_000005.9:g.1414875C>G , CM000667.1:g.1414875C>G GRCh37
NC_000005.8:g.1467875C>G NCBI36
NG_015885.1:g.35669G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1087G>C MANE Select ENSP00000270349.9:p.Val363Leu
ENST00000270349.11:c.1087G>C ENSP00000270349.9:p.Val363Leu
ENST00000511750.1:n.537G>C
NM_001044.4:c.1087G>C NP_001035.1:p.Val363Leu
NM_001044.5:c.1087G>C MANE Select NP_001035.1:p.Val363Leu
Search 100 bp 5'
Search 100 bp 3'