Canonical Allele Identifier: CA3183748
Gene: SLC6A18 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1240642C>T
GRCh37 chr5:g.1240757C>T
gnomAD v2:
5:1240757 C / T
gnomAD v3:
5:1240642 C / T
gnomAD v4:
chr5-1240642-C-T
Joint Max Group AF 0.00028799 (AFR)
Genomes Max Group AF 0.00029963 (AFR)
Exomes Max Group AF 0.00018338 (AFR)
dbSNP:
7447815
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000324642.4:c.957C>T MANE Select ENSP00000323549.3:p.Tyr319=
ENST00000324642.3:c.957C>T ENSP00000323549.3:p.Tyr319=
NM_182632.2:c.957C>T NP_872438.2:p.Tyr319=
NM_182632.3:c.957C>T MANE Select NP_872438.2:p.Tyr319=
Search 100 bp 5'
Search 100 bp 3'