Canonical Allele Identifier: CA174908

Gene: TEX14

Linked Data

• ClinVar Variation Id: 161852
• ClinVar RCV Id: RCV000149388
• dbSNP Id: rs193920796
• ExAC: 17:56659000 G / A
• gnomAD v2: 17-56659000-G-A
• gnomAD v3: 17-58581639-G-A
• gnomAD v4: 17-58581639-G-A
• COSMIC: COSM1179298
• MyVariant Identifiers: chr17:g.56659000G>A (hg19) ; chr17:g.58581639G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58581639G>A , CM000679.2:g.58581639G>A	GRCh38
NC_000017.10:g.56659000G>A , CM000679.1:g.56659000G>A	GRCh37
NC_000017.9:g.54013999G>A	NCBI36
NG_047169.1:g.115441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349033.10:c.3172-1908C>T MANE Select	ENSP00000268910.8:n.3172-1908C>T
ENST00000240361.12:c.3281C>T	ENSP00000240361.8:p.Ser1094Leu
ENST00000349033.9:c.3172-1908C>T	ENSP00000268910.8:n.3172-1908C>T
ENST00000389934.7:c.3263C>T	ENSP00000374584.3:p.Ser1088Leu
ENST00000582740.1:c.*3010-1908C>T	ENSP00000463593.1:n.*3010-1908C>T
NM_001201457.1:c.3281C>T	NP_001188386.1:p.Ser1094Leu
NM_031272.4:c.3172-1908C>T	NP_112562.3:n.3172-1908C>T
NM_198393.3:c.3263C>T	NP_938207.2:p.Ser1088Leu
XM_011525028.1:c.3386C>T	XP_011523330.1:p.Ser1129Leu
XM_011525029.1:c.3386C>T	XP_011523331.1:p.Ser1129Leu
XM_011525030.1:c.3386C>T	XP_011523332.1:p.Ser1129Leu
XM_011525031.1:c.3386C>T	XP_011523333.1:p.Ser1129Leu
XM_011525032.1:c.3149C>T	XP_011523334.1:p.Ser1050Leu
XM_011525033.1:c.2087C>T	XP_011523335.1:p.Ser696Leu
XM_011525029.3:c.3386C>T	XP_011523331.1:p.Ser1129Leu
XM_017024861.1:c.2087C>T	XP_016880350.1:p.Ser696Leu
NM_001201457.2:c.3281C>T	NP_001188386.1:p.Ser1094Leu
NM_031272.5:c.3172-1908C>T MANE Select	NP_112562.3:n.3172-1908C>T
NM_198393.4:c.3263C>T	NP_938207.2:p.Ser1088Leu