Canonical Allele Identifier: CA452821401

Gene: GTF2H5

Linked Data

• MyVariant Identifiers: chr6:g.158613048G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192016G>A , CM000668.2:g.158192016G>A	GRCh38
NC_000006.11:g.158613048G>A , CM000668.1:g.158613048G>A	GRCh37
NC_000006.10:g.158533036G>A	NCBI36
NG_011758.1:g.28670G>A , LRG_469:g.28670G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684993.1:n.134G>A
ENST00000689018.1:n.41-1194G>A
ENST00000689809.1:c.75G>A	ENSP00000510752.1:p.Glu25=
ENST00000691867.1:c.75G>A	ENSP00000510706.1:p.Glu25=
ENST00000607778.2:c.75G>A MANE Select	ENSP00000476100.1:p.Glu25=
ENST00000648328.1:c.*40G>A	ENSP00000497338.1:n.*40G>A
ENST00000607778.1:c.75G>A	ENSP00000476100.1:p.Glu25=
NM_207118.2:c.75G>A , LRG_469t1:c.75G>A	NP_997001.1:p.Glu25=
XM_017010862.1:c.105G>A	XP_016866351.1:p.Glu35=
NM_207118.3:c.75G>A MANE Select	NP_997001.1:p.Glu25=