Canonical Allele Identifier: CA366253280

Gene: GTF2H5

Linked Data

• MyVariant Identifiers: chr6:g.158613039C>G (hg19) ; chr6:g.158192007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192007C>G , CM000668.2:g.158192007C>G	GRCh38
NC_000006.11:g.158613039C>G , CM000668.1:g.158613039C>G	GRCh37
NC_000006.10:g.158533027C>G	NCBI36
NG_011758.1:g.28661C>G , LRG_469:g.28661C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684993.1:n.125C>G
ENST00000689018.1:n.41-1203C>G
ENST00000689809.1:c.66C>G	ENSP00000510752.1:p.Tyr22Ter
ENST00000691867.1:c.66C>G	ENSP00000510706.1:p.Tyr22Ter
ENST00000607778.2:c.66C>G MANE Select	ENSP00000476100.1:p.Tyr22Ter
ENST00000648328.1:c.*31C>G	ENSP00000497338.1:n.*31C>G
ENST00000607778.1:c.66C>G	ENSP00000476100.1:p.Tyr22Ter
NM_207118.2:c.66C>G , LRG_469t1:c.66C>G	NP_997001.1:p.Tyr22Ter
XM_017010862.1:c.96C>G	XP_016866351.1:p.Tyr32Ter
NM_207118.3:c.66C>G MANE Select	NP_997001.1:p.Tyr22Ter