Canonical Allele Identifier: CA3694193
Gene: POLR1H HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.30064745A>C
GRCh37 chr6:g.30032522A>C
gnomAD v2:
6:30032522 A / C
gnomAD v3:
6:30064745 A / C
gnomAD v4:
chr6-30064745-A-C
Joint Max Group AF 0.11917723 (NFE)
Genomes Max Group AF 0.09964397 (NFE)
Exomes Max Group AF 0.12028642 (NFE)
dbSNP:
8321
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30064745A>C , CM000668.2:g.30064745A>C GRCh38
NC_000006.11:g.30032522A>C , CM000668.1:g.30032522A>C GRCh37
NC_000006.10:g.30140501A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000332435.10:c.*48A>C MANE Select ENSP00000331111.5:n.*48A>C
ENST00000332435.9:c.*48A>C ENSP00000331111.5:n.*48A>C
ENST00000359374.8:c.*48A>C ENSP00000352333.4:n.*48A>C
ENST00000376782.6:c.*48A>C ENSP00000365978.2:n.*48A>C
ENST00000376785.2:c.*48A>C ENSP00000365981.2:n.*48A>C
ENST00000463141.1:n.407A>C
ENST00000471008.5:n.3508A>C
NM_001278785.1:c.*48A>C NP_001265714.1:n.*48A>C
NM_001278786.1:c.*48A>C NP_001265715.1:n.*48A>C
NM_014596.5:c.*48A>C NP_055411.1:n.*48A>C
NM_170783.3:c.*48A>C NP_740753.1:n.*48A>C
NR_103864.1:n.497A>C
NM_170783.4:c.*48A>C MANE Select NP_740753.1:n.*48A>C
NM_001278785.2:c.*48A>C NP_001265714.1:n.*48A>C
NM_001278786.2:c.*48A>C NP_001265715.1:n.*48A>C
NM_014596.6:c.*48A>C NP_055411.1:n.*48A>C
NR_103864.2:n.472A>C
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