Canonical Allele Identifier: CA10442916
Gene: TEX11 HGNC NCBI

Linked Data

dbSNP Id: rs200290442
gnomAD v3: X-70853266-A-G
gnomAD v4: X-70853266-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70853266A>G , CM000685.2:g.70853266A>G GRCh38
NC_000023.10:g.70073116A>G , CM000685.1:g.70073116A>G GRCh37
NC_000023.9:g.69989841A>G NCBI36
NG_012574.1:g.60452T>C
NG_012574.2:g.60452T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374333.7:c.387T>C MANE Select ENSP00000363453.2:p.Cys129=
ENST00000344304.3:c.432T>C ENSP00000340995.3:p.Cys144=
ENST00000374333.6:c.387T>C ENSP00000363453.2:p.Cys129=
ENST00000395889.6:c.432T>C ENSP00000379226.2:p.Cys144=
NM_001003811.1:c.432T>C NP_001003811.1:p.Cys144=
NM_031276.2:c.387T>C NP_112566.2:p.Cys129=
XM_011530994.1:c.387T>C XP_011529296.1:p.Cys129=
XM_017029649.1:c.387T>C XP_016885138.1:p.Cys129=
NM_001003811.2:c.432T>C NP_001003811.1:p.Cys144=
NM_031276.3:c.387T>C MANE Select NP_112566.2:p.Cys129=