Canonical Allele Identifier: CA12230194
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

dbSNP Id: rs2571375
gnomAD v2: 6-29945270-A-G
gnomAD v3: 6-29977493-A-G
gnomAD v4: 6-29977493-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977493A>G , CM000668.2:g.29977493A>G GRCh38
NC_000006.11:g.29945270A>G , CM000668.1:g.29945270A>G GRCh37
NC_000006.10:g.30053249A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000688495.1:n.361-98T>C (POLR1HASP)
NR_028032.1:n.404-161A>G (HCG9)