Canonical Allele Identifier: CA400345513

Gene: TEX14

Linked Data

• ClinVar Variation Id: 2394047
• ClinVar RCV Id: RCV004230543
• MyVariant Identifiers: chr17:g.56659036T>G (hg19) ; chr17:g.58581675T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58581675T>G , CM000679.2:g.58581675T>G	GRCh38
NC_000017.10:g.56659036T>G , CM000679.1:g.56659036T>G	GRCh37
NC_000017.9:g.54014035T>G	NCBI36
NG_047169.1:g.115405A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349033.10:c.3172-1944A>C MANE Select	ENSP00000268910.8:n.3172-1944A>C
ENST00000240361.12:c.3245A>C	ENSP00000240361.8:p.Glu1082Ala
ENST00000349033.9:c.3172-1944A>C	ENSP00000268910.8:n.3172-1944A>C
ENST00000389934.7:c.3227A>C	ENSP00000374584.3:p.Glu1076Ala
ENST00000582740.1:c.*3010-1944A>C	ENSP00000463593.1:n.*3010-1944A>C
NM_001201457.1:c.3245A>C	NP_001188386.1:p.Glu1082Ala
NM_031272.4:c.3172-1944A>C	NP_112562.3:n.3172-1944A>C
NM_198393.3:c.3227A>C	NP_938207.2:p.Glu1076Ala
XM_011525028.1:c.3350A>C	XP_011523330.1:p.Glu1117Ala
XM_011525029.1:c.3350A>C	XP_011523331.1:p.Glu1117Ala
XM_011525030.1:c.3350A>C	XP_011523332.1:p.Glu1117Ala
XM_011525031.1:c.3350A>C	XP_011523333.1:p.Glu1117Ala
XM_011525032.1:c.3113A>C	XP_011523334.1:p.Glu1038Ala
XM_011525033.1:c.2051A>C	XP_011523335.1:p.Glu684Ala
XM_011525029.3:c.3350A>C	XP_011523331.1:p.Glu1117Ala
XM_017024861.1:c.2051A>C	XP_016880350.1:p.Glu684Ala
NM_001201457.2:c.3245A>C	NP_001188386.1:p.Glu1082Ala
NM_031272.5:c.3172-1944A>C MANE Select	NP_112562.3:n.3172-1944A>C
NM_198393.4:c.3227A>C	NP_938207.2:p.Glu1076Ala