Canonical Allele Identifier: CA359087175
Gene: SLC6A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1422031A>C (hg19) chr5:g.1421916A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421916A>C , CM000667.2:g.1421916A>C GRCh38
NC_000005.9:g.1422031A>C , CM000667.1:g.1422031A>C GRCh37
NC_000005.8:g.1475031A>C NCBI36
NG_015885.1:g.28513T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.752T>G MANE Select ENSP00000270349.9:p.Leu251Arg
ENST00000270349.11:c.752T>G ENSP00000270349.9:p.Leu251Arg
NM_001044.4:c.752T>G NP_001035.1:p.Leu251Arg
NM_001044.5:c.752T>G MANE Select NP_001035.1:p.Leu251Arg
Search 100 bp 5'
Search 100 bp 3'