Canonical Allele Identifier: CA2677799646
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

gnomAD v4: 6-29977506-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977506G>T , CM000668.2:g.29977506G>T GRCh38
NC_000006.11:g.29945283G>T , CM000668.1:g.29945283G>T GRCh37
NC_000006.10:g.30053262G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-111C>A (POLR1HASP)
NR_028032.1:n.404-148G>T (HCG9)