Canonical Allele Identifier: CA3183747
Gene: SLC6A18 HGNC NCBI
COSMIC:
COSM4159380 (not active)
MyVariant.info:
GRCh38 chr5:g.1240642C>G
GRCh37 chr5:g.1240757C>G
gnomAD v2:
5:1240757 C / G
gnomAD v3:
5:1240642 C / G
gnomAD v4:
chr5-1240642-C-G
Joint Max Group AF 0.39822206 (NFE)
Genomes Max Group AF 0.38356687 (NFE)
Exomes Max Group AF 0.39890706 (NFE)
dbSNP:
7447815
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1240642C>G , CM000667.2:g.1240642C>G GRCh38
NC_000005.9:g.1240757C>G , CM000667.1:g.1240757C>G GRCh37
NC_000005.8:g.1293757C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000324642.4:c.957C>G MANE Select ENSP00000323549.3:p.Tyr319Ter
ENST00000324642.3:c.957C>G ENSP00000323549.3:p.Tyr319Ter
NM_182632.2:c.957C>G NP_872438.2:p.Tyr319Ter
NM_182632.3:c.957C>G MANE Select NP_872438.2:p.Tyr319Ter
Search 100 bp 5'
Search 100 bp 3'