Canonical Allele Identifier: CA112964263
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1011218550
gnomAD v2: 5-1416159-G-C
gnomAD v3: 5-1416044-G-C
gnomAD v4: 5-1416044-G-C
MyVariant Identifiers: chr5:g.1416159G>C (hg19) chr5:g.1416044G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416044G>C , CM000667.2:g.1416044G>C GRCh38
NC_000005.9:g.1416159G>C , CM000667.1:g.1416159G>C GRCh37
NC_000005.8:g.1469159G>C NCBI36
NG_015885.1:g.34385C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1031+54C>G MANE Select ENSP00000270349.9:n.1031+54C>G
ENST00000270349.11:c.1031+54C>G ENSP00000270349.9:n.1031+54C>G
ENST00000511750.1:n.481+54C>G
NM_001044.4:c.1031+54C>G NP_001035.1:n.1031+54C>G
NM_001044.5:c.1031+54C>G MANE Select NP_001035.1:n.1031+54C>G
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