Canonical Allele Identifier: CA15439957
Gene: POLR1HASP HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.30002812T>G
GRCh37 chr6:g.29970589T>G
gnomAD v2:
6:29970589 T / G
gnomAD v3:
6:30002812 T / G
gnomAD v4:
chr6-30002812-T-G
Joint Max Group AF 0.27028852 (AFR)
Genomes Max Group AF 0.27025838 (AFR)
Exomes Max Group AF 0.24880138 (AMR)
dbSNP:
7758512
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30002812T>G , CM000668.2:g.30002812T>G GRCh38
NC_000006.11:g.29970589T>G , CM000668.1:g.29970589T>G GRCh37
NC_000006.10:g.30078568T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-25417A>C
ENST00000376797.7:n.1549-80A>C
ENST00000420251.5:n.709-80A>C
ENST00000425604.5:n.265-80A>C
ENST00000448093.5:n.575-80A>C
NR_026751.1:n.709-80A>C
NR_026751.2:n.714-80A>C
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