Canonical Allele Identifier: CA366253596

Gene: GTF2H5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192104G>T , CM000668.2:g.158192104G>T	GRCh38
NC_000006.11:g.158613136G>T , CM000668.1:g.158613136G>T	GRCh37
NC_000006.10:g.158533124G>T	NCBI36
NG_011758.1:g.28758G>T , LRG_469:g.28758G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_207118.3:c.163G>T MANE Select	NP_997001.1:p.Glu55Ter
ENST00000607778.2:c.163G>T MANE Select	ENSP00000476100.1:p.Glu55Ter
NM_207118.2:c.163G>T , LRG_469t1:c.163G>T	NP_997001.1:p.Glu55Ter
ENST00000607778.1:c.163G>T	ENSP00000476100.1:p.Glu55Ter
ENST00000648328.1:c.*128G>T	ENSP00000497338.1:n.*128G>T
ENST00000684993.1:n.222G>T
ENST00000689018.1:n.41-1106G>T
ENST00000689809.1:c.163G>T	ENSP00000510752.1:p.Glu55Ter
ENST00000691867.1:c.163G>T	ENSP00000510706.1:p.Glu55Ter
XM_017010862.1:c.193G>T	XP_016866351.1:p.Glu65Ter