Canonical Allele Identifier: CA413607790
Gene: TEX11 HGNC NCBI

Linked Data

gnomAD v4: X-70853062-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70853062A>T , CM000685.2:g.70853062A>T GRCh38
NC_000023.10:g.70072912A>T , CM000685.1:g.70072912A>T GRCh37
NC_000023.9:g.69989637A>T NCBI36
NG_012574.1:g.60656T>A
NG_012574.2:g.60656T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374333.7:c.497T>A MANE Select ENSP00000363453.2:p.Phe166Tyr
ENST00000344304.3:c.542T>A ENSP00000340995.3:p.Phe181Tyr
ENST00000374333.6:c.497T>A ENSP00000363453.2:p.Phe166Tyr
ENST00000395889.6:c.542T>A ENSP00000379226.2:p.Phe181Tyr
NM_001003811.1:c.542T>A NP_001003811.1:p.Phe181Tyr
NM_031276.2:c.497T>A NP_112566.2:p.Phe166Tyr
XM_011530994.1:c.497T>A XP_011529296.1:p.Phe166Tyr
XM_017029649.1:c.497T>A XP_016885138.1:p.Phe166Tyr
NM_001003811.2:c.542T>A NP_001003811.1:p.Phe181Tyr
NM_031276.3:c.497T>A MANE Select NP_112566.2:p.Phe166Tyr