Canonical Allele Identifier: CA413608198

Gene: TEX11

Linked Data

• ClinVar Variation Id: 2660832
• ClinVar RCV Id: RCV003438505
• gnomAD v4: X-70853326-C-T
• MyVariant Identifiers: chrX:g.70073176C>T (hg19) ; chrX:g.70853326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70853326C>T , CM000685.2:g.70853326C>T	GRCh38
NC_000023.10:g.70073176C>T , CM000685.1:g.70073176C>T	GRCh37
NC_000023.9:g.69989901C>T	NCBI36
NG_012574.1:g.60392G>A
NG_012574.2:g.60392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374333.7:c.327G>A MANE Select	ENSP00000363453.2:p.Met109Ile
ENST00000344304.3:c.372G>A	ENSP00000340995.3:p.Met124Ile
ENST00000374333.6:c.327G>A	ENSP00000363453.2:p.Met109Ile
ENST00000395889.6:c.372G>A	ENSP00000379226.2:p.Met124Ile
NM_001003811.1:c.372G>A	NP_001003811.1:p.Met124Ile
NM_031276.2:c.327G>A	NP_112566.2:p.Met109Ile
XM_011530994.1:c.327G>A	XP_011529296.1:p.Met109Ile
XM_017029649.1:c.327G>A	XP_016885138.1:p.Met109Ile
NM_001003811.2:c.372G>A	NP_001003811.1:p.Met124Ile
NM_031276.3:c.327G>A MANE Select	NP_112566.2:p.Met109Ile