Canonical Allele Identifier: CA516759949

Gene: TEX11

Linked Data

• dbSNP Id: rs2091518492
• gnomAD v4: X-70853257-A-G
• COSMIC: COSM5463872 ; COSM5463873
• MyVariant Identifiers: chrX:g.70073107A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70853257A>G , CM000685.2:g.70853257A>G	GRCh38
NC_000023.10:g.70073107A>G , CM000685.1:g.70073107A>G	GRCh37
NC_000023.9:g.69989832A>G	NCBI36
NG_012574.1:g.60461T>C
NG_012574.2:g.60461T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374333.7:c.396T>C MANE Select	ENSP00000363453.2:p.Ala132=
ENST00000344304.3:c.441T>C	ENSP00000340995.3:p.Ala147=
ENST00000374333.6:c.396T>C	ENSP00000363453.2:p.Ala132=
ENST00000395889.6:c.441T>C	ENSP00000379226.2:p.Ala147=
NM_001003811.1:c.441T>C	NP_001003811.1:p.Ala147=
NM_031276.2:c.396T>C	NP_112566.2:p.Ala132=
XM_011530994.1:c.396T>C	XP_011529296.1:p.Ala132=
XM_017029649.1:c.396T>C	XP_016885138.1:p.Ala132=
NM_001003811.2:c.441T>C	NP_001003811.1:p.Ala147=
NM_031276.3:c.396T>C MANE Select	NP_112566.2:p.Ala132=