Canonical Allele Identifier: CA804783321
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1375220264
gnomAD v3: 5-1415588-T-C
gnomAD v4: 5-1415588-T-C
MyVariant Identifiers: chr5:g.1415703T>C (hg19) chr5:g.1415588T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1415588T>C , CM000667.2:g.1415588T>C GRCh38
NC_000005.9:g.1415703T>C , CM000667.1:g.1415703T>C GRCh37
NC_000005.8:g.1468703T>C NCBI36
NG_015885.1:g.34841A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1031+510A>G MANE Select ENSP00000270349.9:n.1031+510A>G
ENST00000270349.11:c.1031+510A>G ENSP00000270349.9:n.1031+510A>G
ENST00000511750.1:n.481+510A>G
NM_001044.4:c.1031+510A>G NP_001035.1:n.1031+510A>G
NM_001044.5:c.1031+510A>G MANE Select NP_001035.1:n.1031+510A>G
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