Canonical Allele Identifier: CA7976686
Gene: GTF3C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27505926G>A , CM000678.2:g.27505926G>A GRCh38
NC_000016.9:g.27517247G>A , CM000678.1:g.27517247G>A GRCh37
NC_000016.8:g.27424748G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356183.9:c.1743C>T MANE Select ENSP00000348510.4:p.Ile581=
ENST00000356183.8:c.1743C>T ENSP00000348510.4:p.Ile581=
ENST00000561623.5:c.1743C>T ENSP00000455417.1:p.Ile581=
NM_001286242.1:c.1743C>T NP_001273171.1:p.Ile581=
NM_001520.3:c.1743C>T NP_001511.2:p.Ile581=
XM_011545813.1:c.1743C>T XP_011544115.1:p.Ile581=
XM_011545814.1:c.1743C>T XP_011544116.1:p.Ile581=
XM_011545815.1:c.1743C>T XP_011544117.1:p.Ile581=
XM_017023188.2:c.1743C>T XP_016878677.1:p.Ile581=
NM_001520.4:c.1743C>T MANE Select NP_001511.2:p.Ile581=
NM_001286242.2:c.1743C>T NP_001273171.1:p.Ile581=