Canonical Allele Identifier: CA10442917

Gene: TEX11

Linked Data

• dbSNP Id: rs777581837
• ExAC: X:70073121 C / T
• MyVariant Identifiers: chrX:g.70073121C>T (hg19) ; chrX:g.70853271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70853271C>T , CM000685.2:g.70853271C>T	GRCh38
NC_000023.10:g.70073121C>T , CM000685.1:g.70073121C>T	GRCh37
NC_000023.9:g.69989846C>T	NCBI36
NG_012574.1:g.60447G>A
NG_012574.2:g.60447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374333.7:c.382G>A MANE Select	ENSP00000363453.2:p.Glu128Lys
ENST00000344304.3:c.427G>A	ENSP00000340995.3:p.Glu143Lys
ENST00000374333.6:c.382G>A	ENSP00000363453.2:p.Glu128Lys
ENST00000395889.6:c.427G>A	ENSP00000379226.2:p.Glu143Lys
NM_001003811.1:c.427G>A	NP_001003811.1:p.Glu143Lys
NM_031276.2:c.382G>A	NP_112566.2:p.Glu128Lys
XM_011530994.1:c.382G>A	XP_011529296.1:p.Glu128Lys
XM_017029649.1:c.382G>A	XP_016885138.1:p.Glu128Lys
NM_001003811.2:c.427G>A	NP_001003811.1:p.Glu143Lys
NM_031276.3:c.382G>A MANE Select	NP_112566.2:p.Glu128Lys