Canonical Allele Identifier: CA2590929394
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs2126396292
gnomAD v3: 5-1433467-A-C
gnomAD v4: 5-1433467-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1433467A>C , CM000667.2:g.1433467A>C GRCh38
NC_000005.9:g.1433582A>C , CM000667.1:g.1433582A>C GRCh37
NC_000005.8:g.1486582A>C NCBI36
NG_015885.1:g.16962T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.419-769T>G MANE Select ENSP00000270349.9:n.419-769T>G
ENST00000270349.11:c.419-769T>G ENSP00000270349.9:n.419-769T>G
NM_001044.4:c.419-769T>G NP_001035.1:n.419-769T>G
NM_001044.5:c.419-769T>G MANE Select NP_001035.1:n.419-769T>G
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