Canonical Allele Identifier: CA804913636
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1195145771
gnomAD v3: 5-1431091-G-A
gnomAD v4: 5-1431091-G-A
MyVariant Identifiers: chr5:g.1431206G>A (hg19) chr5:g.1431091G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1431091G>A , CM000667.2:g.1431091G>A GRCh38
NC_000005.9:g.1431206G>A , CM000667.1:g.1431206G>A GRCh37
NC_000005.8:g.1484206G>A NCBI36
NG_015885.1:g.19338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+1373C>T MANE Select ENSP00000270349.9:n.653+1373C>T
ENST00000270349.11:c.653+1373C>T ENSP00000270349.9:n.653+1373C>T
NM_001044.4:c.653+1373C>T NP_001035.1:n.653+1373C>T
NM_001044.5:c.653+1373C>T MANE Select NP_001035.1:n.653+1373C>T
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