Canonical Allele Identifier: CA557858896
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1432710G>C
GRCh37 chr5:g.1432825G>C
gnomAD v2:
5:1432825 G / C
gnomAD v4:
chr5-1432710-G-C
Joint Max Group AF 0.00003246 (AMR)
Exomes Max Group AF 0.00004384 (AMR)
ClinVar RCV:
RCV002653133
ClinVar Variation:
1937162
dbSNP:
460000
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432710G>C , CM000667.2:g.1432710G>C GRCh38
NC_000005.9:g.1432825G>C , CM000667.1:g.1432825G>C GRCh37
NC_000005.8:g.1485825G>C NCBI36
NG_015885.1:g.17719C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.419-12C>G MANE Select ENSP00000270349.9:n.419-12C>G
ENST00000270349.11:c.419-12C>G ENSP00000270349.9:n.419-12C>G
NM_001044.4:c.419-12C>G NP_001035.1:n.419-12C>G
NM_001044.5:c.419-12C>G MANE Select NP_001035.1:n.419-12C>G
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