Canonical Allele Identifier: CA997928
Gene: SLC6A17 HGNC NCBI

Linked Data

ClinVar Variation Id: 187769
ClinVar RCV Id: RCV000167526
dbSNP Id: rs775085213
ExAC: 1:110716634 G / A
gnomAD v2: 1-110716634-G-A
gnomAD v4: 1-110174012-G-A
MyVariant Identifiers: chr1:g.110716634G>A (hg19) chr1:g.110174012G>A (hg38)
PubMed: PMID:25704603
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110174012G>A , CM000663.2:g.110174012G>A GRCh38
NC_000001.10:g.110716634G>A , CM000663.1:g.110716634G>A GRCh37
NC_000001.9:g.110518157G>A NCBI36
NG_051945.1:g.28499G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331565.5:c.484G>A MANE Select ENSP00000330199.3:p.Gly162Arg
ENST00000331565.4:c.484G>A ENSP00000330199.3:p.Gly162Arg
NM_001010898.2:c.484G>A NP_001010898.1:p.Gly162Arg
XM_006710643.1:c.484G>A XP_006710706.1:p.Gly162Arg
NM_001010898.3:c.484G>A NP_001010898.1:p.Gly162Arg
XM_006710643.2:c.484G>A XP_006710706.1:p.Gly162Arg
NM_001010898.4:c.484G>A MANE Select NP_001010898.1:p.Gly162Arg
Search 100 bp 5'
Search 100 bp 3'