Canonical Allele Identifier: CA413608193
Gene: TEX11 HGNC NCBI

Linked Data

dbSNP Id: rs1409837902
gnomAD v3: X-70853325-T-A
gnomAD v4: X-70853325-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70853325T>A , CM000685.2:g.70853325T>A GRCh38
NC_000023.10:g.70073175T>A , CM000685.1:g.70073175T>A GRCh37
NC_000023.9:g.69989900T>A NCBI36
NG_012574.1:g.60393A>T
NG_012574.2:g.60393A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374333.7:c.328A>T MANE Select ENSP00000363453.2:p.Asn110Tyr
ENST00000344304.3:c.373A>T ENSP00000340995.3:p.Asn125Tyr
ENST00000374333.6:c.328A>T ENSP00000363453.2:p.Asn110Tyr
ENST00000395889.6:c.373A>T ENSP00000379226.2:p.Asn125Tyr
NM_001003811.1:c.373A>T NP_001003811.1:p.Asn125Tyr
NM_031276.2:c.328A>T NP_112566.2:p.Asn110Tyr
XM_011530994.1:c.328A>T XP_011529296.1:p.Asn110Tyr
XM_017029649.1:c.328A>T XP_016885138.1:p.Asn110Tyr
NM_001003811.2:c.373A>T NP_001003811.1:p.Asn125Tyr
NM_031276.3:c.328A>T MANE Select NP_112566.2:p.Asn110Tyr