Canonical Allele Identifier: CA413608026
Gene: TEX11 HGNC NCBI

Linked Data

gnomAD v4: X-70853253-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70853253C>G , CM000685.2:g.70853253C>G GRCh38
NC_000023.10:g.70073103C>G , CM000685.1:g.70073103C>G GRCh37
NC_000023.9:g.69989828C>G NCBI36
NG_012574.1:g.60465G>C
NG_012574.2:g.60465G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374333.7:c.400G>C MANE Select ENSP00000363453.2:p.Val134Leu
ENST00000344304.3:c.445G>C ENSP00000340995.3:p.Val149Leu
ENST00000374333.6:c.400G>C ENSP00000363453.2:p.Val134Leu
ENST00000395889.6:c.445G>C ENSP00000379226.2:p.Val149Leu
NM_001003811.1:c.445G>C NP_001003811.1:p.Val149Leu
NM_031276.2:c.400G>C NP_112566.2:p.Val134Leu
XM_011530994.1:c.400G>C XP_011529296.1:p.Val134Leu
XM_017029649.1:c.400G>C XP_016885138.1:p.Val134Leu
NM_001003811.2:c.445G>C NP_001003811.1:p.Val149Leu
NM_031276.3:c.400G>C MANE Select NP_112566.2:p.Val134Leu