Canonical Allele Identifier: CA366253293

Gene: GTF2H5

Linked Data

• MyVariant Identifiers: chr6:g.158613043G>C (hg19) ; chr6:g.158192011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192011G>C , CM000668.2:g.158192011G>C	GRCh38
NC_000006.11:g.158613043G>C , CM000668.1:g.158613043G>C	GRCh37
NC_000006.10:g.158533031G>C	NCBI36
NG_011758.1:g.28665G>C , LRG_469:g.28665G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684993.1:n.129G>C
ENST00000689018.1:n.41-1199G>C
ENST00000689809.1:c.70G>C	ENSP00000510752.1:p.Asp24His
ENST00000691867.1:c.70G>C	ENSP00000510706.1:p.Asp24His
ENST00000607778.2:c.70G>C MANE Select	ENSP00000476100.1:p.Asp24His
ENST00000648328.1:c.*35G>C	ENSP00000497338.1:n.*35G>C
ENST00000607778.1:c.70G>C	ENSP00000476100.1:p.Asp24His
NM_207118.2:c.70G>C , LRG_469t1:c.70G>C	NP_997001.1:p.Asp24His
XM_017010862.1:c.100G>C	XP_016866351.1:p.Asp34His
NM_207118.3:c.70G>C MANE Select	NP_997001.1:p.Asp24His