Canonical Allele Identifier: CA384065803
Gene: SLC15A5 HGNC NCBI
ClinVar RCV:
RCV004270243
ClinVar Variation:
2482309
dbSNP:
1261523828
gnomAD v2:
12:16425526 C / T
gnomAD v3:
12:16272592 C / T
gnomAD v4:
chr12-16272592-C-T
Joint Max Group AF 0.00006352 (EAS)
Exomes Max Group AF 0.00005451 (EAS)
MyVariant.info:
GRCh38 chr12:g.16272592C>T
GRCh37 chr12:g.16425526C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.16272592C>T , CM000674.2:g.16272592C>T GRCh38
NC_000012.11:g.16425526C>T , CM000674.1:g.16425526C>T GRCh37
NC_000012.10:g.16316793C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000344941.3:c.553G>A MANE Select ENSP00000340402.3:p.Gly185Arg
NM_001170798.1:c.553G>A MANE Select NP_001164269.1:p.Gly185Arg
XR_429049.2:n.1547C>T
XR_001749028.1:n.624C>T
XR_001749029.1:n.2147C>T
Search 100 bp 5'
Search 100 bp 3'