Canonical Allele Identifier: CA366253284

Gene: GTF2H5

Linked Data

• MyVariant Identifiers: chr6:g.158613041T>A (hg19) ; chr6:g.158192009T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192009T>A , CM000668.2:g.158192009T>A	GRCh38
NC_000006.11:g.158613041T>A , CM000668.1:g.158613041T>A	GRCh37
NC_000006.10:g.158533029T>A	NCBI36
NG_011758.1:g.28663T>A , LRG_469:g.28663T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684993.1:n.127T>A
ENST00000689018.1:n.41-1201T>A
ENST00000689809.1:c.68T>A	ENSP00000510752.1:p.Leu23Ter
ENST00000691867.1:c.68T>A	ENSP00000510706.1:p.Leu23Ter
ENST00000607778.2:c.68T>A MANE Select	ENSP00000476100.1:p.Leu23Ter
ENST00000648328.1:c.*33T>A	ENSP00000497338.1:n.*33T>A
ENST00000607778.1:c.68T>A	ENSP00000476100.1:p.Leu23Ter
NM_207118.2:c.68T>A , LRG_469t1:c.68T>A	NP_997001.1:p.Leu23Ter
XM_017010862.1:c.98T>A	XP_016866351.1:p.Leu33Ter
NM_207118.3:c.68T>A MANE Select	NP_997001.1:p.Leu23Ter