Canonical Allele Identifier: CA443021614
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1421918-C-T
MyVariant Identifiers: chr5:g.1422033C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421918C>T , CM000667.2:g.1421918C>T GRCh38
NC_000005.9:g.1422033C>T , CM000667.1:g.1422033C>T GRCh37
NC_000005.8:g.1475033C>T NCBI36
NG_015885.1:g.28511G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.750G>A MANE Select ENSP00000270349.9:p.Leu250=
ENST00000270349.11:c.750G>A ENSP00000270349.9:p.Leu250=
NM_001044.4:c.750G>A NP_001035.1:p.Leu250=
NM_001044.5:c.750G>A MANE Select NP_001035.1:p.Leu250=
Search 100 bp 5'
Search 100 bp 3'