Canonical Allele Identifier: CA1072530167
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756617833
gnomAD v3: 5-1428342-G-A
gnomAD v4: 5-1428342-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1428342G>A , CM000667.2:g.1428342G>A GRCh38
NC_000005.9:g.1428457G>A , CM000667.1:g.1428457G>A GRCh37
NC_000005.8:g.1481457G>A NCBI36
NG_015885.1:g.22087C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+4122C>T MANE Select ENSP00000270349.9:n.653+4122C>T
ENST00000270349.11:c.653+4122C>T ENSP00000270349.9:n.653+4122C>T
NM_001044.4:c.653+4122C>T NP_001035.1:n.653+4122C>T
NM_001044.5:c.653+4122C>T MANE Select NP_001035.1:n.653+4122C>T
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