Canonical Allele Identifier: CA400337466

Gene: TEX14

Linked Data

• ClinVar Variation Id: 2290293
• ClinVar RCV Id: RCV004145810
• MyVariant Identifiers: chr17:g.56649373G>C (hg19) ; chr17:g.58572012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58572012G>C , CM000679.2:g.58572012G>C	GRCh38
NC_000017.10:g.56649373G>C , CM000679.1:g.56649373G>C	GRCh37
NC_000017.9:g.54004372G>C	NCBI36
NG_047169.1:g.125068C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349033.10:c.3626C>G MANE Select	ENSP00000268910.8:p.Ser1209Cys
ENST00000240361.12:c.3764C>G	ENSP00000240361.8:p.Ser1255Cys
ENST00000349033.9:c.3626C>G	ENSP00000268910.8:p.Ser1209Cys
ENST00000389934.7:c.3746C>G	ENSP00000374584.3:p.Ser1249Cys
ENST00000581147.1:c.186C>G
ENST00000582740.1:c.*3464C>G	ENSP00000463593.1:n.*3464C>G
NM_001201457.1:c.3764C>G	NP_001188386.1:p.Ser1255Cys
NM_031272.4:c.3626C>G	NP_112562.3:p.Ser1209Cys
NM_198393.3:c.3746C>G	NP_938207.2:p.Ser1249Cys
XM_011525028.1:c.3869C>G	XP_011523330.1:p.Ser1290Cys
XM_011525029.1:c.3869C>G	XP_011523331.1:p.Ser1290Cys
XM_011525030.1:c.3869C>G	XP_011523332.1:p.Ser1290Cys
XM_011525031.1:c.3869C>G	XP_011523333.1:p.Ser1290Cys
XM_011525032.1:c.3632C>G	XP_011523334.1:p.Ser1211Cys
XM_011525033.1:c.2570C>G	XP_011523335.1:p.Ser857Cys
XM_011525029.3:c.3869C>G	XP_011523331.1:p.Ser1290Cys
XM_017024861.1:c.2570C>G	XP_016880350.1:p.Ser857Cys
NM_001201457.2:c.3764C>G	NP_001188386.1:p.Ser1255Cys
NM_031272.5:c.3626C>G MANE Select	NP_112562.3:p.Ser1209Cys
NM_198393.4:c.3746C>G	NP_938207.2:p.Ser1249Cys