Canonical Allele Identifier: CA366253268

Gene: GTF2H5

Linked Data

• MyVariant Identifiers: chr6:g.158613037T>G (hg19) ; chr6:g.158192005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192005T>G , CM000668.2:g.158192005T>G	GRCh38
NC_000006.11:g.158613037T>G , CM000668.1:g.158613037T>G	GRCh37
NC_000006.10:g.158533025T>G	NCBI36
NG_011758.1:g.28659T>G , LRG_469:g.28659T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684993.1:n.123T>G
ENST00000689018.1:n.41-1205T>G
ENST00000689809.1:c.64T>G	ENSP00000510752.1:p.Tyr22Asp
ENST00000691867.1:c.64T>G	ENSP00000510706.1:p.Tyr22Asp
ENST00000607778.2:c.64T>G MANE Select	ENSP00000476100.1:p.Tyr22Asp
ENST00000648328.1:c.*29T>G	ENSP00000497338.1:n.*29T>G
ENST00000607778.1:c.64T>G	ENSP00000476100.1:p.Tyr22Asp
NM_207118.2:c.64T>G , LRG_469t1:c.64T>G	NP_997001.1:p.Tyr22Asp
XM_017010862.1:c.94T>G	XP_016866351.1:p.Tyr32Asp
NM_207118.3:c.64T>G MANE Select	NP_997001.1:p.Tyr22Asp