Canonical Allele Identifier: CA12412385
Gene: POLR1HASP HGNC NCBI

Linked Data

dbSNP Id: rs9261174
gnomAD v2: 6-29996855-T-C
gnomAD v3: 6-30029078-T-C
gnomAD v4: 6-30029078-T-C
MyVariant Identifiers: chr6:g.29996855T>C (hg19) chr6:g.30029078T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30029078T>C , CM000668.2:g.30029078T>C GRCh38
NC_000006.11:g.29996855T>C , CM000668.1:g.29996855T>C GRCh37
NC_000006.10:g.30104834T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000701313.1:n.702+5830A>G
ENST00000701715.1:n.442+5830A>G
ENST00000702304.1:n.411-19247A>G
ENST00000685581.1:n.497-7317A>G
ENST00000688495.1:n.360+29037A>G
ENST00000376797.7:n.530+5830A>G
ENST00000420251.5:n.708+5830A>G
ENST00000425604.5:n.265-26346A>G
ENST00000437417.5:n.1247+5830A>G
ENST00000444051.1:n.108+5830A>G
ENST00000448093.5:n.480-7317A>G
NR_026751.1:n.708+5830A>G
NR_026751.2:n.713+5830A>G
NR_145416.1:n.713+5830A>G
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