Canonical Allele Identifier: CA2545483651
Gene: SLC6A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394927G>T , CM000667.2:g.1394927G>T GRCh38
NC_000005.9:g.1395042G>T , CM000667.1:g.1395042G>T GRCh37
NC_000005.8:g.1448042G>T NCBI36
NG_015885.1:g.55502C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1840-169C>A MANE Select ENSP00000270349.9:n.1840-169C>A
ENST00000270349.11:c.1840-169C>A ENSP00000270349.9:n.1840-169C>A
ENST00000512002.2:n.221-169C>A
NM_001044.4:c.1840-169C>A NP_001035.1:n.1840-169C>A
NM_001044.5:c.1840-169C>A MANE Select NP_001035.1:n.1840-169C>A
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