Canonical Allele Identifier: CA400356772

Gene: TEX14

Linked Data

• ClinVar Variation Id: 2552395
• ClinVar RCV Id: RCV004322454
• dbSNP Id: rs1567726731
• MyVariant Identifiers: chr17:g.56676379C>G (hg19) ; chr17:g.58599018C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58599018C>G , CM000679.2:g.58599018C>G	GRCh38
NC_000017.10:g.56676379C>G , CM000679.1:g.56676379C>G	GRCh37
NC_000017.9:g.54031378C>G	NCBI36
NG_047169.1:g.98062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349033.10:c.2327G>C MANE Select	ENSP00000268910.8:p.Arg776Thr
ENST00000240361.12:c.2345G>C	ENSP00000240361.8:p.Arg782Thr
ENST00000349033.9:c.2327G>C	ENSP00000268910.8:p.Arg776Thr
ENST00000389934.7:c.2327G>C	ENSP00000374584.3:p.Arg776Thr
ENST00000582740.1:c.*2165G>C	ENSP00000463593.1:n.*2165G>C
NM_001201457.1:c.2345G>C	NP_001188386.1:p.Arg782Thr
NM_031272.4:c.2327G>C	NP_112562.3:p.Arg776Thr
NM_198393.3:c.2327G>C	NP_938207.2:p.Arg776Thr
XM_011525028.1:c.2327G>C	XP_011523330.1:p.Arg776Thr
XM_011525029.1:c.2327G>C	XP_011523331.1:p.Arg776Thr
XM_011525030.1:c.2327G>C	XP_011523332.1:p.Arg776Thr
XM_011525031.1:c.2327G>C	XP_011523333.1:p.Arg776Thr
XM_011525032.1:c.2213G>C	XP_011523334.1:p.Arg738Thr
XM_011525033.1:c.1151G>C	XP_011523335.1:p.Arg384Thr
XM_011525029.3:c.2327G>C	XP_011523331.1:p.Arg776Thr
XM_017024861.1:c.1151G>C	XP_016880350.1:p.Arg384Thr
NM_001201457.2:c.2345G>C	NP_001188386.1:p.Arg782Thr
NM_031272.5:c.2327G>C MANE Select	NP_112562.3:p.Arg776Thr
NM_198393.4:c.2327G>C	NP_938207.2:p.Arg776Thr