Canonical Allele Identifier: CA112968429
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs572993686
gnomAD v3: 5-1423519-G-T
gnomAD v4: 5-1423519-G-T
MyVariant Identifiers: chr5:g.1423634G>T (hg19) chr5:g.1423519G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423519G>T , CM000667.2:g.1423519G>T GRCh38
NC_000005.9:g.1423634G>T , CM000667.1:g.1423634G>T GRCh37
NC_000005.8:g.1476634G>T NCBI36
NG_015885.1:g.26910C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1505C>A MANE Select ENSP00000270349.9:n.654-1505C>A
ENST00000270349.11:c.654-1505C>A ENSP00000270349.9:n.654-1505C>A
NM_001044.4:c.654-1505C>A NP_001035.1:n.654-1505C>A
NM_001044.5:c.654-1505C>A MANE Select NP_001035.1:n.654-1505C>A
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