Canonical Allele Identifier: CA11915905
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1415514A>T
GRCh37 chr5:g.1415629A>T
gnomAD v2:
5:1415629 A / T
gnomAD v3:
5:1415514 A / T
gnomAD v4:
chr5-1415514-A-T
Joint Max Group AF 0.46941278 (EAS)
Genomes Max Group AF 0.46941278 (EAS)
dbSNP:
37022
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1415514A>T , CM000667.2:g.1415514A>T GRCh38
NC_000005.9:g.1415629A>T , CM000667.1:g.1415629A>T GRCh37
NC_000005.8:g.1468629A>T NCBI36
NG_015885.1:g.34915T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1031+584T>A MANE Select ENSP00000270349.9:n.1031+584T>A
ENST00000270349.11:c.1031+584T>A ENSP00000270349.9:n.1031+584T>A
ENST00000511750.1:n.481+584T>A
NM_001044.4:c.1031+584T>A NP_001035.1:n.1031+584T>A
NM_001044.5:c.1031+584T>A MANE Select NP_001035.1:n.1031+584T>A
Search 100 bp 5'
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