Canonical Allele Identifier: CA9200344
Gene: QTRT1 HGNC NCBI
COSMIC:
COSN15323594 (not active)
MyVariant.info:
GRCh38 chr19:g.10707416G>A
GRCh37 chr19:g.10818092G>A
gnomAD v2:
19:10818092 G / A
gnomAD v3:
19:10707416 G / A
gnomAD v4:
chr19-10707416-G-A
Joint Max Group AF 0.64273326 (AFR)
Genomes Max Group AF 0.64519164 (AFR)
Exomes Max Group AF 0.63523754 (AFR)
dbSNP:
892085
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10707416G>A , CM000681.2:g.10707416G>A GRCh38
NC_000019.9:g.10818092G>A , CM000681.1:g.10818092G>A GRCh37
NC_000019.8:g.10679092G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250237.10:c.530+36G>A MANE Select ENSP00000250237.4:n.530+36G>A
ENST00000250237.9:c.530+36G>A ENSP00000250237.4:n.530+36G>A
ENST00000421333.6:c.530+36G>A ENSP00000389126.2:n.530+36G>A
ENST00000585885.5:n.537+36G>A
ENST00000587599.5:c.641+36G>A
ENST00000589488.5:n.561+36G>A
ENST00000590705.5:n.634+36G>A
ENST00000591643.1:c.75+36G>A
ENST00000592254.1:c.475+36G>A
NM_031209.2:c.530+36G>A NP_112486.1:n.530+36G>A
NM_031209.3:c.530+36G>A MANE Select NP_112486.1:n.530+36G>A
Search 100 bp 5'
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