Canonical Allele Identifier: CA366253207

Gene: GTF2H5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158191990A>T , CM000668.2:g.158191990A>T	GRCh38
NC_000006.11:g.158613022A>T , CM000668.1:g.158613022A>T	GRCh37
NC_000006.10:g.158533010A>T	NCBI36
NG_011758.1:g.28644A>T , LRG_469:g.28644A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_207118.3:c.49A>T MANE Select	NP_997001.1:p.Lys17Ter
ENST00000607778.2:c.49A>T MANE Select	ENSP00000476100.1:p.Lys17Ter
NM_207118.2:c.49A>T , LRG_469t1:c.49A>T	NP_997001.1:p.Lys17Ter
ENST00000607778.1:c.49A>T	ENSP00000476100.1:p.Lys17Ter
ENST00000648328.1:c.*14A>T	ENSP00000497338.1:n.*14A>T
ENST00000684993.1:n.108A>T
ENST00000689018.1:n.41-1220A>T
ENST00000689809.1:c.49A>T	ENSP00000510752.1:p.Lys17Ter
ENST00000691867.1:c.49A>T	ENSP00000510706.1:p.Lys17Ter
XM_017010862.1:c.79A>T	XP_016866351.1:p.Lys27Ter