Canonical Allele Identifier: CA565894808
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

dbSNP Id: rs1430213641
gnomAD v2: 6-29945230-C-T
gnomAD v3: 6-29977453-C-T
gnomAD v4: 6-29977453-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977453C>T , CM000668.2:g.29977453C>T GRCh38
NC_000006.11:g.29945230C>T , CM000668.1:g.29945230C>T GRCh37
NC_000006.10:g.30053209C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-58G>A (POLR1HASP)
NR_028032.1:n.404-201C>T (HCG9)