Canonical Allele Identifier: CA1087351188
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

dbSNP Id: rs1774469957
gnomAD v3: 6-29977436-A-G
gnomAD v4: 6-29977436-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977436A>G , CM000668.2:g.29977436A>G GRCh38
NC_000006.11:g.29945213A>G , CM000668.1:g.29945213A>G GRCh37
NC_000006.10:g.30053192A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-41T>C (POLR1HASP)
NR_028032.1:n.404-218A>G (HCG9)