Canonical Allele Identifier: CA2590929393
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs2126396198
gnomAD v3: 5-1433421-C-G
gnomAD v4: 5-1433421-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1433421C>G , CM000667.2:g.1433421C>G GRCh38
NC_000005.9:g.1433536C>G , CM000667.1:g.1433536C>G GRCh37
NC_000005.8:g.1486536C>G NCBI36
NG_015885.1:g.17008G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.419-723G>C MANE Select ENSP00000270349.9:n.419-723G>C
ENST00000270349.11:c.419-723G>C ENSP00000270349.9:n.419-723G>C
NM_001044.4:c.419-723G>C NP_001035.1:n.419-723G>C
NM_001044.5:c.419-723G>C MANE Select NP_001035.1:n.419-723G>C
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