Canonical Allele Identifier: CA136013232
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

dbSNP Id: rs796344262
gnomAD v2: 6-29945279-A-C
gnomAD v3: 6-29977502-A-C
gnomAD v4: 6-29977502-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977502A>C , CM000668.2:g.29977502A>C GRCh38
NC_000006.11:g.29945279A>C , CM000668.1:g.29945279A>C GRCh37
NC_000006.10:g.30053258A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-107T>G (POLR1HASP)
NR_028032.1:n.404-152A>C (HCG9)