Canonical Allele Identifier: CA289281597
Gene: SLC6A4 HGNC NCBI

Linked Data

dbSNP Id: rs562973706
gnomAD v2: 17-28548580-C-T
gnomAD v3: 17-30221562-C-T
gnomAD v4: 17-30221562-C-T
MyVariant Identifiers: chr17:g.28548580C>T (hg19) chr17:g.28548580_28548597delinsTGGGTCACAGCCCACCCT (hg19) chr17:g.30221562C>T (hg38) chr17:g.30221562_30221579delinsTGGGTCACAGCCCACCCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30221562C>T , CM000679.2:g.30221562C>T GRCh38
NC_000017.10:g.28548580C>T , CM000679.1:g.28548580C>T GRCh37
NC_000017.9:g.25572706C>T NCBI36
NG_011747.2:g.19375G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650711.1:c.343+54G>A MANE Select ENSP00000498537.1:n.343+54G>A
ENST00000261707.7:c.343+54G>A ENSP00000261707.3:n.343+54G>A
ENST00000394821.2:c.343+54G>A ENSP00000378298.2:n.343+54G>A
ENST00000401766.6:c.343+54G>A ENSP00000385822.2:n.343+54G>A
NM_001045.5:c.343+54G>A NP_001036.1:n.343+54G>A
NM_001045.6:c.343+54G>A MANE Select NP_001036.1:n.343+54G>A
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