Canonical Allele Identifier: CA804747887
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1321207944
gnomAD v3: 5-1411167-C-G
gnomAD v4: 5-1411167-C-G
MyVariant Identifiers: chr5:g.1411282C>G (hg19) chr5:g.1411167C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411167C>G , CM000667.2:g.1411167C>G GRCh38
NC_000005.9:g.1411282C>G , CM000667.1:g.1411282C>G GRCh37
NC_000005.8:g.1464282C>G NCBI36
NG_015885.1:g.39262G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+76G>C MANE Select ENSP00000270349.9:n.1269+76G>C
ENST00000270349.11:c.1269+76G>C ENSP00000270349.9:n.1269+76G>C
NM_001044.4:c.1269+76G>C NP_001035.1:n.1269+76G>C
NM_001044.5:c.1269+76G>C MANE Select NP_001035.1:n.1269+76G>C
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