Canonical Allele Identifier: CA452821398

Gene: GTF2H5

Linked Data

• gnomAD v4: 6-158192013-T-C
• MyVariant Identifiers: chr6:g.158613045T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192013T>C , CM000668.2:g.158192013T>C	GRCh38
NC_000006.11:g.158613045T>C , CM000668.1:g.158613045T>C	GRCh37
NC_000006.10:g.158533033T>C	NCBI36
NG_011758.1:g.28667T>C , LRG_469:g.28667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684993.1:n.131T>C
ENST00000689018.1:n.41-1197T>C
ENST00000689809.1:c.72T>C	ENSP00000510752.1:p.Asp24=
ENST00000691867.1:c.72T>C	ENSP00000510706.1:p.Asp24=
ENST00000607778.2:c.72T>C MANE Select	ENSP00000476100.1:p.Asp24=
ENST00000648328.1:c.*37T>C	ENSP00000497338.1:n.*37T>C
ENST00000607778.1:c.72T>C	ENSP00000476100.1:p.Asp24=
NM_207118.2:c.72T>C , LRG_469t1:c.72T>C	NP_997001.1:p.Asp24=
XM_017010862.1:c.102T>C	XP_016866351.1:p.Asp34=
NM_207118.3:c.72T>C MANE Select	NP_997001.1:p.Asp24=