Canonical Allele Identifier: CA4071588

Gene: GTF2H5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158191975A>G , CM000668.2:g.158191975A>G	GRCh38
NC_000006.11:g.158613007A>G , CM000668.1:g.158613007A>G	GRCh37
NC_000006.10:g.158532995A>G	NCBI36
NG_011758.1:g.28629A>G , LRG_469:g.28629A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_207118.3:c.36-2A>G MANE Select	NP_997001.1:n.36-2A>G
ENST00000607778.2:c.36-2A>G MANE Select	ENSP00000476100.1:n.36-2A>G
NM_207118.2:c.36-2A>G , LRG_469t1:c.36-2A>G	NP_997001.1:n.36-2A>G
ENST00000607778.1:c.36-2A>G	ENSP00000476100.1:n.36-2A>G
ENST00000648328.1:c.*1-2A>G	ENSP00000497338.1:n.*1-2A>G
ENST00000684993.1:n.95-2A>G
ENST00000689018.1:n.41-1235A>G
ENST00000689809.1:c.36-2A>G	ENSP00000510752.1:n.36-2A>G
ENST00000691867.1:c.36-2A>G	ENSP00000510706.1:n.36-2A>G
XM_017010862.1:c.66-2A>G	XP_016866351.1:n.66-2A>G