Canonical Allele Identifier: CA366253314

Gene: GTF2H5

Linked Data

• MyVariant Identifiers: chr6:g.158613048G>T (hg19) ; chr6:g.158192016G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684993.1:n.134G>T
ENST00000689018.1:n.41-1194G>T
ENST00000689809.1:c.75G>T	ENSP00000510752.1:p.Glu25Asp
ENST00000691867.1:c.75G>T	ENSP00000510706.1:p.Glu25Asp
ENST00000607778.2:c.75G>T MANE Select	ENSP00000476100.1:p.Glu25Asp
ENST00000648328.1:c.*40G>T	ENSP00000497338.1:n.*40G>T
ENST00000607778.1:c.75G>T	ENSP00000476100.1:p.Glu25Asp
NM_207118.2:c.75G>T , LRG_469t1:c.75G>T	NP_997001.1:p.Glu25Asp
XM_017010862.1:c.105G>T	XP_016866351.1:p.Glu35Asp
NM_207118.3:c.75G>T MANE Select	NP_997001.1:p.Glu25Asp