Canonical Allele Identifier: CA7976106

Gene: GTF3C1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27488277C>T , CM000678.2:g.27488277C>T	GRCh38
NC_000016.9:g.27499598C>T , CM000678.1:g.27499598C>T	GRCh37
NC_000016.8:g.27407099C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001520.4:c.3650G>A MANE Select	NP_001511.2:p.Arg1217Gln
ENST00000356183.9:c.3650G>A MANE Select	ENSP00000348510.4:p.Arg1217Gln
NM_001286242.1:c.3650G>A	NP_001273171.1:p.Arg1217Gln
NM_001286242.2:c.3650G>A	NP_001273171.1:p.Arg1217Gln
NM_001520.3:c.3650G>A	NP_001511.2:p.Arg1217Gln
ENST00000356183.8:c.3650G>A	ENSP00000348510.4:p.Arg1217Gln
ENST00000561623.5:c.3650G>A	ENSP00000455417.1:p.Arg1217Gln
ENST00000564664.5:c.302G>A	ENSP00000457476.1:p.Arg101Gln
ENST00000569653.1:c.96+13030G>A
XM_011545813.1:c.3650G>A	XP_011544115.1:p.Arg1217Gln
XM_011545814.1:c.3650G>A	XP_011544116.1:p.Arg1217Gln
XM_011545815.1:c.3511+277G>A	XP_011544117.1:n.3511+277G>A
XM_017023188.2:c.3511+277G>A	XP_016878677.1:n.3511+277G>A