Canonical Allele Identifier: CA7975500

Gene: GTF3C1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27464620G>C , CM000678.2:g.27464620G>C	GRCh38
NC_000016.9:g.27475941G>C , CM000678.1:g.27475941G>C	GRCh37
NC_000016.8:g.27383442G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356183.9:c.5572C>G MANE Select	ENSP00000348510.4:p.Arg1858Gly
ENST00000356183.8:c.5572C>G	ENSP00000348510.4:p.Arg1858Gly
ENST00000561623.5:c.5572C>G	ENSP00000455417.1:p.Arg1858Gly
ENST00000562609.2:n.1285C>G
ENST00000569653.1:c.97-211C>G
NM_001286242.1:c.5572C>G	NP_001273171.1:p.Arg1858Gly
NM_001520.3:c.5572C>G	NP_001511.2:p.Arg1858Gly
XM_011545813.1:c.5590C>G	XP_011544115.1:p.Arg1864Gly
XM_011545814.1:c.5590C>G	XP_011544116.1:p.Arg1864Gly
XM_011545815.1:c.5401C>G	XP_011544117.1:p.Arg1801Gly
XM_017023188.2:c.5383C>G	XP_016878677.1:p.Arg1795Gly
NM_001520.4:c.5572C>G MANE Select	NP_001511.2:p.Arg1858Gly
NM_001286242.2:c.5572C>G	NP_001273171.1:p.Arg1858Gly