Canonical Allele Identifier: CA1087351178
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

gnomAD v3: 6-29977419-C-G
gnomAD v4: 6-29977419-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977419C>G , CM000668.2:g.29977419C>G GRCh38
NC_000006.11:g.29945196C>G , CM000668.1:g.29945196C>G GRCh37
NC_000006.10:g.30053175C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-24G>C (POLR1HASP)
NR_028032.1:n.404-235C>G (HCG9)