Canonical Allele Identifier: CA14733977
Gene: TPGS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.508626C>T
GRCh37 chr19:g.508626C>T
gnomAD v2:
19:508626 C / T
gnomAD v3:
19:508626 C / T
gnomAD v4:
chr19-508626-C-T
Joint Max Group AF 0.68125181 (SAS)
Genomes Max Group AF 0.68207016 (SAS)
Exomes Max Group AF 0.3571059 (NFE)
dbSNP:
4919908
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.508626C>T , CM000681.2:g.508626C>T GRCh38
NC_000019.9:g.508626C>T , CM000681.1:g.508626C>T GRCh37
NC_000019.8:g.459626C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359315.6:c.338+782C>T MANE Select ENSP00000352265.4:n.338+782C>T
ENST00000588278.1:n.1127C>T
NM_033513.2:c.338+782C>T NP_277048.2:n.338+782C>T
NM_033513.3:c.338+782C>T MANE Select NP_277048.2:n.338+782C>T
Search 100 bp 5'
Search 100 bp 3'