Canonical Allele Identifier: CA359087182
Gene: SLC6A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1422034A>T (hg19) chr5:g.1421919A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421919A>T , CM000667.2:g.1421919A>T GRCh38
NC_000005.9:g.1422034A>T , CM000667.1:g.1422034A>T GRCh37
NC_000005.8:g.1475034A>T NCBI36
NG_015885.1:g.28510T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.749T>A MANE Select ENSP00000270349.9:p.Leu250Gln
ENST00000270349.11:c.749T>A ENSP00000270349.9:p.Leu250Gln
NM_001044.4:c.749T>A NP_001035.1:p.Leu250Gln
NM_001044.5:c.749T>A MANE Select NP_001035.1:p.Leu250Gln
Search 100 bp 5'
Search 100 bp 3'