Canonical Allele Identifier: CA11915935
Gene: SLC6A3 HGNC NCBI
COSMIC:
COSN24824586 (not active)
MyVariant.info:
GRCh38 chr5:g.1433286G>A
GRCh37 chr5:g.1433401G>A
gnomAD v2:
5:1433401 G / A
gnomAD v3:
5:1433286 G / A
gnomAD v4:
chr5-1433286-G-A
Joint Max Group AF 0.34618608 (NFE)
Genomes Max Group AF 0.34618608 (NFE)
dbSNP:
4975646
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1433286G>A , CM000667.2:g.1433286G>A GRCh38
NC_000005.9:g.1433401G>A , CM000667.1:g.1433401G>A GRCh37
NC_000005.8:g.1486401G>A NCBI36
NG_015885.1:g.17143C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.419-588C>T MANE Select ENSP00000270349.9:n.419-588C>T
ENST00000270349.11:c.419-588C>T ENSP00000270349.9:n.419-588C>T
NM_001044.4:c.419-588C>T NP_001035.1:n.419-588C>T
NM_001044.5:c.419-588C>T MANE Select NP_001035.1:n.419-588C>T
Search 100 bp 5'
Search 100 bp 3'