Canonical Allele Identifier: CA210211701

Gene: POLR3A

Linked Data

• dbSNP Id: rs941589108
• gnomAD v2: 10-79769847-A-AGCGT
• gnomAD v3: 10-78010089-A-AGCGT
• gnomAD v4: 10-78010089-A-AGCGT
• MyVariant Identifiers: chr10:g.79769847_79769848insGCGT (hg19) ; chr10:g.78010089_78010090insGCGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78010091_78010094dup , CM000672.2:g.78010091_78010094dup	GRCh38
NC_000010.10:g.79769849_79769852dup , CM000672.1:g.79769849_79769852dup	GRCh37
NC_000010.9:g.79439855_79439858dup	NCBI36
NG_029648.1:g.24448_24451dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1222-102_1222-99dup
ENST00000698729.1:n.2768-102_2768-99dup
ENST00000698730.1:n.2768-102_2768-99dup
ENST00000698731.1:c.1502-102_1502-99dup	ENSP00000513898.1:n.1502-102_1502-99dup
ENST00000698732.1:c.*504-102_*504-99dup	ENSP00000513899.1:n.*504-102_*504-99dup
ENST00000698733.1:c.*830-102_*830-99dup	ENSP00000513900.1:n.*830-102_*830-99dup
ENST00000698734.1:c.1643-102_1643-99dup	ENSP00000513901.1:n.1643-102_1643-99dup
ENST00000698735.1:n.1758-102_1758-99dup
ENST00000698736.1:n.1758-102_1758-99dup
ENST00000698737.1:n.1758-102_1758-99dup
ENST00000698738.1:n.1758-102_1758-99dup
ENST00000698739.1:n.1758-102_1758-99dup
ENST00000372371.8:c.1643-102_1643-99dup MANE Select	ENSP00000361446.3:n.1643-102_1643-99dup
ENST00000372371.7:c.1643-102_1643-99dup	ENSP00000361446.3:n.1643-102_1643-99dup
ENST00000473588.2:c.445-102_445-99dup
NM_007055.3:c.1643-102_1643-99dup	NP_008986.2:n.1643-102_1643-99dup
NM_007055.4:c.1643-102_1643-99dup MANE Select	NP_008986.2:n.1643-102_1643-99dup