Canonical Allele Identifier: CA2677799628
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

gnomAD v4: 6-29977497-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977497G>A , CM000668.2:g.29977497G>A GRCh38
NC_000006.11:g.29945274G>A , CM000668.1:g.29945274G>A GRCh37
NC_000006.10:g.30053253G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-102C>T (POLR1HASP)
NR_028032.1:n.404-157G>A (HCG9)