Canonical Allele Identifier: CA413608139
Gene: TEX11 HGNC NCBI

Linked Data

gnomAD v4: X-70853303-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70853303C>A , CM000685.2:g.70853303C>A GRCh38
NC_000023.10:g.70073153C>A , CM000685.1:g.70073153C>A GRCh37
NC_000023.9:g.69989878C>A NCBI36
NG_012574.1:g.60415G>T
NG_012574.2:g.60415G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374333.7:c.350G>T MANE Select ENSP00000363453.2:p.Trp117Leu
ENST00000344304.3:c.395G>T ENSP00000340995.3:p.Trp132Leu
ENST00000374333.6:c.350G>T ENSP00000363453.2:p.Trp117Leu
ENST00000395889.6:c.395G>T ENSP00000379226.2:p.Trp132Leu
NM_001003811.1:c.395G>T NP_001003811.1:p.Trp132Leu
NM_031276.2:c.350G>T NP_112566.2:p.Trp117Leu
XM_011530994.1:c.350G>T XP_011529296.1:p.Trp117Leu
XM_017029649.1:c.350G>T XP_016885138.1:p.Trp117Leu
NM_001003811.2:c.395G>T NP_001003811.1:p.Trp132Leu
NM_031276.3:c.350G>T MANE Select NP_112566.2:p.Trp117Leu