Canonical Allele Identifier: CA12419313
Gene: POLR1HASP HGNC NCBI
HLA-J HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.30006148C>T
GRCh37 chr6:g.29973925C>T
gnomAD v2:
6:29973925 C / T
gnomAD v3:
6:30006148 C / T
gnomAD v4:
chr6-30006148-C-T
Joint Max Group AF 0.81742685 (EAS)
Genomes Max Group AF 0.81675758 (EAS)
Exomes Max Group AF 0.81194969 (NFE)
dbSNP:
4313034
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30006148C>T , CM000668.2:g.30006148C>T GRCh38
NC_000006.11:g.29973925C>T , CM000668.1:g.29973925C>T GRCh37
NC_000006.10:g.30081904C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-28753G>A (POLR1HASP)
ENST00000376797.7:n.1346+1075G>A (POLR1HASP)
ENST00000420251.5:n.709-3416G>A (POLR1HASP)
ENST00000425604.5:n.265-3416G>A (POLR1HASP)
ENST00000448093.5:n.575-3416G>A (POLR1HASP)
ENST00000458060.1:n.969G>A
ENST00000462773.6:n.169+9C>T (HLA-J)
NR_024240.1:n.169+9C>T (HLA-J)
NR_026751.1:n.709-3416G>A (POLR1HASP)
NR_026751.2:n.714-3416G>A (POLR1HASP)
Search 100 bp 5'
Search 100 bp 3'