Canonical Allele Identifier: CA112964174
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs991816118
gnomAD v2: 5-1416048-T-G
gnomAD v3: 5-1415933-T-G
gnomAD v4: 5-1415933-T-G
MyVariant Identifiers: chr5:g.1416048T>G (hg19) chr5:g.1415933T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1415933T>G , CM000667.2:g.1415933T>G GRCh38
NC_000005.9:g.1416048T>G , CM000667.1:g.1416048T>G GRCh37
NC_000005.8:g.1469048T>G NCBI36
NG_015885.1:g.34496A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1031+165A>C MANE Select ENSP00000270349.9:n.1031+165A>C
ENST00000270349.11:c.1031+165A>C ENSP00000270349.9:n.1031+165A>C
ENST00000511750.1:n.481+165A>C
NM_001044.4:c.1031+165A>C NP_001035.1:n.1031+165A>C
NM_001044.5:c.1031+165A>C MANE Select NP_001035.1:n.1031+165A>C
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