Canonical Allele Identifier: CA1675992859
Gene: GTF2H5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158192005T= , CM000668.2:g.158192005T= GRCh38
NC_000006.11:g.158613037T= , CM000668.1:g.158613037T= GRCh37
NC_000006.10:g.158533025T= NCBI36
NG_011758.1:g.28659T= , LRG_469:g.28659T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684993.1:n.123T=
ENST00000689018.1:n.41-1205T=
ENST00000689809.1:c.64T= ENSP00000510752.1:p.Tyr22=
ENST00000691867.1:c.64T= ENSP00000510706.1:p.Tyr22=
ENST00000607778.2:c.64T= MANE Select ENSP00000476100.1:p.Tyr22=
ENST00000648328.1:c.*29T= ENSP00000497338.1:n.*29T=
ENST00000607778.1:c.64T= ENSP00000476100.1:p.Tyr22=
NM_207118.2:c.64T= , LRG_469t1:c.64T= NP_997001.1:p.Tyr22=
XM_017010862.1:c.94T= XP_016866351.1:p.Tyr32=
NM_207118.3:c.64T= MANE Select NP_997001.1:p.Tyr22=