Canonical Allele Identifier: CA7028346
Gene: SLC15A1 HGNC NCBI
COSMIC:
COSM3753771 (not active)
COSM3753772 (not active)
MyVariant.info:
GRCh38 chr13:g.98723927C>T
GRCh37 chr13:g.99376181C>T
Revel Score:
ENST00000376503 (MANE Select) 0.092
ENST00000376494 0.092
ENST00000313260 0.092
gnomAD v2:
13:99376181 C / T
gnomAD v3:
13:98723927 C / T
gnomAD v4:
chr13-98723927-C-T
Joint Max Group AF 0.42052475 (EAS)
Genomes Max Group AF 0.41967917 (EAS)
Exomes Max Group AF 0.41903163 (EAS)
dbSNP:
2297322
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.98723927C>T , CM000675.2:g.98723927C>T GRCh38
NC_000013.10:g.99376181C>T , CM000675.1:g.99376181C>T GRCh37
NC_000013.9:g.98174182C>T NCBI36
NG_017032.1:g.33749G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376503.10:c.350G>A MANE Select ENSP00000365686.4:p.Ser117Asn
ENST00000376494.1:n.447G>A
ENST00000376503.9:c.350G>A ENSP00000365686.4:p.Ser117Asn
ENST00000613008.1:c.380G>A ENSP00000482440.1:p.Ser127Asn
ENST00000618992.4:c.350G>A ENSP00000478051.1:p.Ser117Asn
NM_005073.3:c.350G>A NP_005064.1:p.Ser117Asn
NM_005073.4:c.350G>A MANE Select NP_005064.1:p.Ser117Asn
Search 100 bp 5'
Search 100 bp 3'