Canonical Allele Identifier: CA998003
Gene: SLC6A17 HGNC NCBI

Linked Data

ClinVar Variation Id: 436763
ClinVar RCV Id: RCV000503329 RCV003343874
dbSNP Id: rs147200498
ExAC: 1:110719321 G / A
gnomAD v2: 1-110719321-G-A
gnomAD v3: 1-110176699-G-A
gnomAD v4: 1-110176699-G-A
MyVariant Identifiers: chr1:g.110719321G>A (hg19) chr1:g.110176699G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110176699G>A , CM000663.2:g.110176699G>A GRCh38
NC_000001.10:g.110719321G>A , CM000663.1:g.110719321G>A GRCh37
NC_000001.9:g.110520844G>A NCBI36
NG_051945.1:g.31186G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331565.5:c.824G>A MANE Select ENSP00000330199.3:p.Arg275Gln
ENST00000331565.4:c.824G>A ENSP00000330199.3:p.Arg275Gln
NM_001010898.2:c.824G>A NP_001010898.1:p.Arg275Gln
XM_006710643.1:c.824G>A XP_006710706.1:p.Arg275Gln
NM_001010898.3:c.824G>A NP_001010898.1:p.Arg275Gln
XM_006710643.2:c.824G>A XP_006710706.1:p.Arg275Gln
NM_001010898.4:c.824G>A MANE Select NP_001010898.1:p.Arg275Gln
Search 100 bp 5'
Search 100 bp 3'