Canonical Allele Identifier: CA8480464
Gene: SLC6A4 HGNC NCBI

Linked Data

dbSNP Id: rs778131401
ExAC: 17:28548644 C / A
gnomAD v2: 17-28548644-C-A
gnomAD v4: 17-30221626-C-A
MyVariant Identifiers: chr17:g.28548644C>A (hg19) chr17:g.30221626C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30221626C>A , CM000679.2:g.30221626C>A GRCh38
NC_000017.10:g.28548644C>A , CM000679.1:g.28548644C>A GRCh37
NC_000017.9:g.25572770C>A NCBI36
NG_011747.2:g.19311G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650711.1:c.333G>T MANE Select ENSP00000498537.1:p.Gln111His
ENST00000261707.7:c.333G>T ENSP00000261707.3:p.Gln111His
ENST00000394821.2:c.333G>T ENSP00000378298.2:p.Gln111His
ENST00000401766.6:c.333G>T ENSP00000385822.2:p.Gln111His
NM_001045.5:c.333G>T NP_001036.1:p.Gln111His
NM_001045.6:c.333G>T MANE Select NP_001036.1:p.Gln111His
Search 100 bp 5'
Search 100 bp 3'