Canonical Allele Identifier: CA366253297

Gene: GTF2H5

Linked Data

• MyVariant Identifiers: chr6:g.158613044A>G (hg19) ; chr6:g.158192012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192012A>G , CM000668.2:g.158192012A>G	GRCh38
NC_000006.11:g.158613044A>G , CM000668.1:g.158613044A>G	GRCh37
NC_000006.10:g.158533032A>G	NCBI36
NG_011758.1:g.28666A>G , LRG_469:g.28666A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684993.1:n.130A>G
ENST00000689018.1:n.41-1198A>G
ENST00000689809.1:c.71A>G	ENSP00000510752.1:p.Asp24Gly
ENST00000691867.1:c.71A>G	ENSP00000510706.1:p.Asp24Gly
ENST00000607778.2:c.71A>G MANE Select	ENSP00000476100.1:p.Asp24Gly
ENST00000648328.1:c.*36A>G	ENSP00000497338.1:n.*36A>G
ENST00000607778.1:c.71A>G	ENSP00000476100.1:p.Asp24Gly
NM_207118.2:c.71A>G , LRG_469t1:c.71A>G	NP_997001.1:p.Asp24Gly
XM_017010862.1:c.101A>G	XP_016866351.1:p.Asp34Gly
NM_207118.3:c.71A>G MANE Select	NP_997001.1:p.Asp24Gly