Canonical Allele Identifier: CA3185942
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 538064
ClinVar RCV Id: RCV000647217
dbSNP Id: rs769456530
ExAC: 5:1403076 C / T
gnomAD v2: 5-1403076-C-T
gnomAD v3: 5-1402961-C-T
gnomAD v4: 5-1402961-C-T
MyVariant Identifiers: chr5:g.1403076C>T (hg19) chr5:g.1402961C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1402961C>T , CM000667.2:g.1402961C>T GRCh38
NC_000005.9:g.1403076C>T , CM000667.1:g.1403076C>T GRCh37
NC_000005.8:g.1456076C>T NCBI36
NG_015885.1:g.47468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1728G>A MANE Select ENSP00000270349.9:p.Ala576=
ENST00000270349.11:c.1728G>A ENSP00000270349.9:p.Ala576=
NM_001044.4:c.1728G>A NP_001035.1:p.Ala576=
NM_001044.5:c.1728G>A MANE Select NP_001035.1:p.Ala576=
Search 100 bp 5'
Search 100 bp 3'