Canonical Allele Identifier: CA10442919

Gene: TEX11

Linked Data

• dbSNP Id: rs770843069
• ExAC: X:70073128 G / A
• gnomAD v2: X-70073128-G-A
• gnomAD v3: X-70853278-G-A
• gnomAD v4: X-70853278-G-A
• MyVariant Identifiers: chrX:g.70073128G>A (hg19) ; chrX:g.70853278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70853278G>A , CM000685.2:g.70853278G>A	GRCh38
NC_000023.10:g.70073128G>A , CM000685.1:g.70073128G>A	GRCh37
NC_000023.9:g.69989853G>A	NCBI36
NG_012574.1:g.60440C>T
NG_012574.2:g.60440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374333.7:c.375C>T MANE Select	ENSP00000363453.2:p.Ile125=
ENST00000344304.3:c.420C>T	ENSP00000340995.3:p.Ile140=
ENST00000374333.6:c.375C>T	ENSP00000363453.2:p.Ile125=
ENST00000395889.6:c.420C>T	ENSP00000379226.2:p.Ile140=
NM_001003811.1:c.420C>T	NP_001003811.1:p.Ile140=
NM_031276.2:c.375C>T	NP_112566.2:p.Ile125=
XM_011530994.1:c.375C>T	XP_011529296.1:p.Ile125=
XM_017029649.1:c.375C>T	XP_016885138.1:p.Ile125=
NM_001003811.2:c.420C>T	NP_001003811.1:p.Ile140=
NM_031276.3:c.375C>T MANE Select	NP_112566.2:p.Ile125=