Canonical Allele Identifier: CA2680962294

Gene: GTF2H5

Linked Data

• gnomAD v4: 6-158191915-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158191915T>C , CM000668.2:g.158191915T>C	GRCh38
NC_000006.11:g.158612947T>C , CM000668.1:g.158612947T>C	GRCh37
NC_000006.10:g.158532935T>C	NCBI36
NG_011758.1:g.28569T>C , LRG_469:g.28569T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684993.1:n.95-62T>C
ENST00000689018.1:n.41-1295T>C
ENST00000689809.1:c.36-62T>C	ENSP00000510752.1:n.36-62T>C
ENST00000691867.1:c.36-62T>C	ENSP00000510706.1:n.36-62T>C
ENST00000607778.2:c.36-62T>C MANE Select	ENSP00000476100.1:n.36-62T>C
ENST00000648328.1:c.*1-62T>C	ENSP00000497338.1:n.*1-62T>C
ENST00000607778.1:c.36-62T>C	ENSP00000476100.1:n.36-62T>C
NM_207118.2:c.36-62T>C , LRG_469t1:c.36-62T>C	NP_997001.1:n.36-62T>C
XM_017010862.1:c.66-62T>C	XP_016866351.1:n.66-62T>C
NM_207118.3:c.36-62T>C MANE Select	NP_997001.1:n.36-62T>C