Canonical Allele Identifier: CA359087187
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1421922-A-G
MyVariant Identifiers: chr5:g.1422037A>G (hg19) chr5:g.1421922A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421922A>G , CM000667.2:g.1421922A>G GRCh38
NC_000005.9:g.1422037A>G , CM000667.1:g.1422037A>G GRCh37
NC_000005.8:g.1475037A>G NCBI36
NG_015885.1:g.28507T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.746T>C MANE Select ENSP00000270349.9:p.Val249Ala
ENST00000270349.11:c.746T>C ENSP00000270349.9:p.Val249Ala
NM_001044.4:c.746T>C NP_001035.1:p.Val249Ala
NM_001044.5:c.746T>C MANE Select NP_001035.1:p.Val249Ala
Search 100 bp 5'
Search 100 bp 3'