Canonical Allele Identifier: CA2677799522
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

gnomAD v4: 6-29977422-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977422A>G , CM000668.2:g.29977422A>G GRCh38
NC_000006.11:g.29945199A>G , CM000668.1:g.29945199A>G GRCh37
NC_000006.10:g.30053178A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-27T>C (POLR1HASP)
NR_028032.1:n.404-232A>G (HCG9)