Canonical Allele Identifier: CA364283728

Gene: POLR1C

Linked Data

• dbSNP Id: rs1793081722
• gnomAD v3: 6-43520310-A-G
• gnomAD v4: 6-43520310-A-G
• MyVariant Identifiers: chr6:g.43488048A>G (hg19) ; chr6:g.43520310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520310A>G , CM000668.2:g.43520310A>G	GRCh38
NC_000006.11:g.43488048A>G , CM000668.1:g.43488048A>G	GRCh37
NC_000006.10:g.43596026A>G	NCBI36
NG_028283.1:g.8272A>G
NG_028283.3:g.15609A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.538A>G	ENSP00000496683.1:p.Asn180Asp
ENST00000642195.1:c.538A>G MANE Select	ENSP00000496044.1:p.Asn180Asp
ENST00000643341.1:c.538A>G	ENSP00000496018.1:p.Asn180Asp
ENST00000643799.1:c.538A>G	ENSP00000494529.1:p.Asn180Asp
ENST00000645141.1:c.*149A>G	ENSP00000496755.1:n.*149A>G
ENST00000646188.1:c.373A>G	ENSP00000496001.1:p.Asn125Asp
ENST00000646433.1:c.538A>G	ENSP00000494368.1:p.Asn180Asp
ENST00000646700.1:c.538A>G	ENSP00000495521.1:p.Asn180Asp
ENST00000304004.7:c.538A>G	ENSP00000307212.3:p.Asn180Asp
ENST00000372344.6:c.538A>G	ENSP00000361419.2:p.Asn180Asp
ENST00000372389.7:c.538A>G	ENSP00000361465.3:p.Asn180Asp
ENST00000423780.1:c.416A>G
ENST00000428025.6:c.373A>G
ENST00000455605.2:n.831A>G
ENST00000481352.6:n.910A>G
ENST00000488601.6:n.777A>G
NM_203290.2:c.538A>G	NP_976035.1:p.Asn180Asp
XM_005249491.1:c.538A>G	XP_005249548.1:p.Asn180Asp
XM_011515000.1:c.538A>G	XP_011513302.1:p.Asn180Asp
NM_001318876.1:c.538A>G	NP_001305805.1:p.Asn180Asp
NM_001363658.1:c.538A>G	NP_001350587.1:p.Asn180Asp
NM_203290.3:c.538A>G	NP_976035.1:p.Asn180Asp
NM_203290.4:c.538A>G MANE Select	NP_976035.1:p.Asn180Asp
NM_001363658.2:c.538A>G	NP_001350587.1:p.Asn180Asp
NM_001318876.2:c.538A>G	NP_001305805.1:p.Asn180Asp