Canonical Allele Identifier: CA136013216
Gene: POLR1HASP HGNC NCBI
HCG9 HGNC NCBI

Linked Data

dbSNP Id: rs372662859
gnomAD v2: 6-29945235-C-T
gnomAD v3: 6-29977458-C-T
gnomAD v4: 6-29977458-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29977458C>T , CM000668.2:g.29977458C>T GRCh38
NC_000006.11:g.29945235C>T , CM000668.1:g.29945235C>T GRCh37
NC_000006.10:g.30053214C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688495.1:n.361-63G>A (POLR1HASP)
NR_028032.1:n.404-196C>T (HCG9)