Canonical Allele Identifier: CA379518190

Gene: GTF2H1

Linked Data

• MyVariant Identifiers: chr11:g.18357493G>C (hg19) ; chr11:g.18335946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335946G>C , CM000673.2:g.18335946G>C	GRCh38
NC_000011.9:g.18357493G>C , CM000673.1:g.18357493G>C	GRCh37
NC_000011.8:g.18314069G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.347G>C MANE Select	ENSP00000265963.4:p.Arg116Thr
ENST00000265963.8:c.347G>C	ENSP00000265963.4:p.Arg116Thr
ENST00000418116.6:n.546G>C
ENST00000453096.6:c.347G>C	ENSP00000393638.2:p.Arg116Thr
ENST00000534641.5:c.-1-2163G>C	ENSP00000435375.1:n.-1-2163G>C
ENST00000543932.5:n.760G>C
NM_001142307.1:c.347G>C	NP_001135779.1:p.Arg116Thr
NM_005316.3:c.347G>C	NP_005307.1:p.Arg116Thr
XM_006718208.2:c.347G>C	XP_006718271.1:p.Arg116Thr
XM_006718208.3:c.347G>C	XP_006718271.1:p.Arg116Thr
XM_024448457.1:c.347G>C	XP_024304225.1:p.Arg116Thr
XM_024448458.1:c.347G>C	XP_024304226.1:p.Arg116Thr
NM_005316.4:c.347G>C MANE Select	NP_005307.1:p.Arg116Thr
NM_001142307.2:c.347G>C	NP_001135779.1:p.Arg116Thr