Canonical Allele Identifier: CA138340824

Gene: POLR1C

Linked Data

• dbSNP Id: rs147312516
• gnomAD v3: 6-43761896-C-T
• gnomAD v4: 6-43761896-C-T
• MyVariant Identifiers: chr6:g.43729633C>T (hg19) ; chr6:g.43761896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43761896C>T , CM000668.2:g.43761896C>T	GRCh38
NC_000006.11:g.43729633C>T , CM000668.1:g.43729633C>T	GRCh37
NC_000006.10:g.43837611C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NM_001318876.2:c.945+232625C>T	NP_001305805.1:n.945+232625C>T