Canonical Allele Identifier: CA3186219
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1416213G>C
GRCh37 chr5:g.1416328G>C
gnomAD v2:
5:1416328 G / C
gnomAD v3:
5:1416213 G / C
gnomAD v4:
chr5-1416213-G-C
Joint Max Group AF 0.00001541 (NFE)
Exomes Max Group AF 0.00001551 (NFE)
ClinVar RCV:
RCV002621680
ClinVar Variation:
1927399
dbSNP:
746229140
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416213G>C , CM000667.2:g.1416213G>C GRCh38
NC_000005.9:g.1416328G>C , CM000667.1:g.1416328G>C GRCh37
NC_000005.8:g.1469328G>C NCBI36
NG_015885.1:g.34216C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.928-12C>G MANE Select ENSP00000270349.9:n.928-12C>G
ENST00000270349.11:c.928-12C>G ENSP00000270349.9:n.928-12C>G
ENST00000511750.1:n.366C>G
NM_001044.4:c.928-12C>G NP_001035.1:n.928-12C>G
NM_001044.5:c.928-12C>G MANE Select NP_001035.1:n.928-12C>G
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