Canonical Allele Identifier: CA366253263

Gene: GTF2H5

Linked Data

• dbSNP Id: rs121434365
• gnomAD v2: 6-158613035-T-A
• gnomAD v4: 6-158192003-T-A
• MyVariant Identifiers: chr6:g.158613035T>A (hg19) ; chr6:g.158192003T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192003T>A , CM000668.2:g.158192003T>A	GRCh38
NC_000006.11:g.158613035T>A , CM000668.1:g.158613035T>A	GRCh37
NC_000006.10:g.158533023T>A	NCBI36
NG_011758.1:g.28657T>A , LRG_469:g.28657T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684993.1:n.121T>A
ENST00000689018.1:n.41-1207T>A
ENST00000689809.1:c.62T>A	ENSP00000510752.1:p.Leu21Gln
ENST00000691867.1:c.62T>A	ENSP00000510706.1:p.Leu21Gln
ENST00000607778.2:c.62T>A MANE Select	ENSP00000476100.1:p.Leu21Gln
ENST00000648328.1:c.*27T>A	ENSP00000497338.1:n.*27T>A
ENST00000607778.1:c.62T>A	ENSP00000476100.1:p.Leu21Gln
NM_207118.2:c.62T>A , LRG_469t1:c.62T>A	NP_997001.1:p.Leu21Gln
XM_017010862.1:c.92T>A	XP_016866351.1:p.Leu31Gln
NM_207118.3:c.62T>A MANE Select	NP_997001.1:p.Leu21Gln