Canonical Allele Identifier: CA331002041

Gene: TEX11

Linked Data

• dbSNP Id: rs996795407
• gnomAD v3: X-70853253-C-A
• gnomAD v4: X-70853253-C-A
• MyVariant Identifiers: chrX:g.70073103C>A (hg19) ; chrX:g.70853253C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70853253C>A , CM000685.2:g.70853253C>A	GRCh38
NC_000023.10:g.70073103C>A , CM000685.1:g.70073103C>A	GRCh37
NC_000023.9:g.69989828C>A	NCBI36
NG_012574.1:g.60465G>T
NG_012574.2:g.60465G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374333.7:c.400G>T MANE Select	ENSP00000363453.2:p.Val134Leu
ENST00000344304.3:c.445G>T	ENSP00000340995.3:p.Val149Leu
ENST00000374333.6:c.400G>T	ENSP00000363453.2:p.Val134Leu
ENST00000395889.6:c.445G>T	ENSP00000379226.2:p.Val149Leu
NM_001003811.1:c.445G>T	NP_001003811.1:p.Val149Leu
NM_031276.2:c.400G>T	NP_112566.2:p.Val134Leu
XM_011530994.1:c.400G>T	XP_011529296.1:p.Val134Leu
XM_017029649.1:c.400G>T	XP_016885138.1:p.Val134Leu
NM_001003811.2:c.445G>T	NP_001003811.1:p.Val149Leu
NM_031276.3:c.400G>T MANE Select	NP_112566.2:p.Val134Leu