Canonical Allele Identifier: CA823767933
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

dbSNP Id: rs1325905418
gnomAD v3: 6-29977485-G-A
gnomAD v4: 6-29977485-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977485G>A , CM000668.2:g.29977485G>A GRCh38
NC_000006.11:g.29945262G>A , CM000668.1:g.29945262G>A GRCh37
NC_000006.10:g.30053241G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-90C>T (POLR1HASP)
NR_028032.1:n.404-169G>A (HCG9)