Canonical Allele Identifier: CA1072513848
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1733733742
gnomAD v3: 5-1443605-A-G
gnomAD v4: 5-1443605-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443605A>G , CM000667.2:g.1443605A>G GRCh38
NC_000005.9:g.1443720A>G , CM000667.1:g.1443720A>G GRCh37
NC_000005.8:g.1496720A>G NCBI36
NG_015885.1:g.6824T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-363T>C MANE Select ENSP00000270349.9:n.-45-363T>C
ENST00000270349.11:c.-45-363T>C ENSP00000270349.9:n.-45-363T>C
NM_001044.4:c.-45-363T>C NP_001035.1:n.-45-363T>C
NM_001044.5:c.-45-363T>C MANE Select NP_001035.1:n.-45-363T>C
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