Canonical Allele Identifier: CA2683309528
Gene: GTF2I HGNC NCBI

Linked Data

gnomAD v4: 7-74684716-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74684716T>A , CM000669.2:g.74684716T>A GRCh38
NC_000007.13:g.74099050T>A , CM000669.1:g.74099050T>A GRCh37
NC_000007.12:g.73736986T>A NCBI36
NG_008179.2:g.32027T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000690345.1:c.479-4408T>A ENSP00000509776.1:n.479-4408T>A
ENST00000573035.6:c.-5-4408T>A MANE Select ENSP00000460070.1:n.-5-4408T>A
ENST00000650807.1:c.479-4408T>A ENSP00000499094.1:n.479-4408T>A
ENST00000432143.2:c.-194T>A ENSP00000405022.1:n.-194T>A
ENST00000443166.5:c.-5-4408T>A ENSP00000404240.1:n.-5-4408T>A
ENST00000573035.5:c.-5-4408T>A ENSP00000460070.1:n.-5-4408T>A
ENST00000613513.1:n.403-6257T>A
ENST00000614986.4:c.-5-4408T>A ENSP00000484526.1:n.-5-4408T>A
ENST00000620879.4:c.-5-4408T>A ENSP00000477837.1:n.-5-4408T>A
ENST00000621734.4:c.-5-4408T>A ENSP00000482476.1:n.-5-4408T>A
NM_001163636.2:c.-5-4408T>A NP_001157108.1:n.-5-4408T>A
NM_001280800.1:c.-5-4408T>A NP_001267729.1:n.-5-4408T>A
NM_001518.4:c.-5-4408T>A NP_001509.3:n.-5-4408T>A
NM_032999.3:c.-5-4408T>A NP_127492.1:n.-5-4408T>A
NM_033000.3:c.-5-4408T>A NP_127493.1:n.-5-4408T>A
NM_033001.3:c.-5-4408T>A NP_127494.1:n.-5-4408T>A
NM_001163636.3:c.-5-4408T>A NP_001157108.1:n.-5-4408T>A
NM_001518.5:c.-5-4408T>A NP_001509.3:n.-5-4408T>A
NM_032999.4:c.-5-4408T>A MANE Select NP_127492.1:n.-5-4408T>A
NM_033000.4:c.-5-4408T>A NP_127493.1:n.-5-4408T>A
NM_033001.4:c.-5-4408T>A NP_127494.1:n.-5-4408T>A
NM_001280800.2:c.-5-4408T>A NP_001267729.1:n.-5-4408T>A