Canonical Allele Identifier: CA565894820
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

dbSNP Id: rs1407124956
gnomAD v2: 6-29945277-G-T
gnomAD v3: 6-29977500-G-T
gnomAD v4: 6-29977500-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977500G>T , CM000668.2:g.29977500G>T GRCh38
NC_000006.11:g.29945277G>T , CM000668.1:g.29945277G>T GRCh37
NC_000006.10:g.30053256G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-105C>A (POLR1HASP)
NR_028032.1:n.404-154G>T (HCG9)