Canonical Allele Identifier: CA1087351174
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

dbSNP Id: rs1001500123
gnomAD v3: 6-29977413-C-T
gnomAD v4: 6-29977413-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977413C>T , CM000668.2:g.29977413C>T GRCh38
NC_000006.11:g.29945190C>T , CM000668.1:g.29945190C>T GRCh37
NC_000006.10:g.30053169C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-18G>A (POLR1HASP)
NR_028032.1:n.404-241C>T (HCG9)