Canonical Allele Identifier: CA2578782633

Gene: GTF2H5

Linked Data

• gnomAD v4: 6-158191916-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158191916C>A , CM000668.2:g.158191916C>A	GRCh38
NC_000006.11:g.158612948C>A , CM000668.1:g.158612948C>A	GRCh37
NC_000006.10:g.158532936C>A	NCBI36
NG_011758.1:g.28570C>A , LRG_469:g.28570C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684993.1:n.95-61C>A
ENST00000689018.1:n.41-1294C>A
ENST00000689809.1:c.36-61C>A	ENSP00000510752.1:n.36-61C>A
ENST00000691867.1:c.36-61C>A	ENSP00000510706.1:n.36-61C>A
ENST00000607778.2:c.36-61C>A MANE Select	ENSP00000476100.1:n.36-61C>A
ENST00000648328.1:c.*1-61C>A	ENSP00000497338.1:n.*1-61C>A
ENST00000607778.1:c.36-61C>A	ENSP00000476100.1:n.36-61C>A
NM_207118.2:c.36-61C>A , LRG_469t1:c.36-61C>A	NP_997001.1:n.36-61C>A
XM_017010862.1:c.66-61C>A	XP_016866351.1:n.66-61C>A
NM_207118.3:c.36-61C>A MANE Select	NP_997001.1:n.36-61C>A