Canonical Allele Identifier: CA112961610
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1644733
ClinVar RCV Id: RCV002140767
dbSNP Id: rs951684585
gnomAD v2: 5-1411338-G-A
gnomAD v3: 5-1411223-G-A
gnomAD v4: 5-1411223-G-A
MyVariant Identifiers: chr5:g.1411338G>A (hg19) chr5:g.1411223G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411223G>A , CM000667.2:g.1411223G>A GRCh38
NC_000005.9:g.1411338G>A , CM000667.1:g.1411338G>A GRCh37
NC_000005.8:g.1464338G>A NCBI36
NG_015885.1:g.39206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+20C>T MANE Select ENSP00000270349.9:n.1269+20C>T
ENST00000270349.11:c.1269+20C>T ENSP00000270349.9:n.1269+20C>T
NM_001044.4:c.1269+20C>T NP_001035.1:n.1269+20C>T
NM_001044.5:c.1269+20C>T MANE Select NP_001035.1:n.1269+20C>T
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