Canonical Allele Identifier: CA3185942
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1402961C>T
GRCh37 chr5:g.1403076C>T
gnomAD v2:
5:1403076 C / T
gnomAD v3:
5:1402961 C / T
gnomAD v4:
chr5-1402961-C-T
Joint Max Group AF 0.00005137 (SAS)
Genomes Max Group AF 0.00007909 (NFE)
Exomes Max Group AF 0.00003983 (AFR)
ClinVar RCV:
RCV000647217
ClinVar Variation:
538064
dbSNP:
769456530
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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'