Canonical Allele Identifier: CA413607853
Gene: TEX11 HGNC NCBI

Linked Data

dbSNP Id: rs1295740489
gnomAD v2: X-70072938-C-A
gnomAD v4: X-70853088-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70853088C>A , CM000685.2:g.70853088C>A GRCh38
NC_000023.10:g.70072938C>A , CM000685.1:g.70072938C>A GRCh37
NC_000023.9:g.69989663C>A NCBI36
NG_012574.1:g.60630G>T
NG_012574.2:g.60630G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374333.7:c.471G>T MANE Select ENSP00000363453.2:p.Glu157Asp
ENST00000344304.3:c.516G>T ENSP00000340995.3:p.Glu172Asp
ENST00000374333.6:c.471G>T ENSP00000363453.2:p.Glu157Asp
ENST00000395889.6:c.516G>T ENSP00000379226.2:p.Glu172Asp
NM_001003811.1:c.516G>T NP_001003811.1:p.Glu172Asp
NM_031276.2:c.471G>T NP_112566.2:p.Glu157Asp
XM_011530994.1:c.471G>T XP_011529296.1:p.Glu157Asp
XM_017029649.1:c.471G>T XP_016885138.1:p.Glu157Asp
NM_001003811.2:c.516G>T NP_001003811.1:p.Glu172Asp
NM_031276.3:c.471G>T MANE Select NP_112566.2:p.Glu157Asp