Canonical Allele Identifier: CA2578260692
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1411181-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411181G>T , CM000667.2:g.1411181G>T GRCh38
NC_000005.9:g.1411296G>T , CM000667.1:g.1411296G>T GRCh37
NC_000005.8:g.1464296G>T NCBI36
NG_015885.1:g.39248C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+62C>A MANE Select ENSP00000270349.9:n.1269+62C>A
ENST00000270349.11:c.1269+62C>A ENSP00000270349.9:n.1269+62C>A
NM_001044.4:c.1269+62C>A NP_001035.1:n.1269+62C>A
NM_001044.5:c.1269+62C>A MANE Select NP_001035.1:n.1269+62C>A
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