Canonical Allele Identifier: CA10442922
Gene: TEX11 HGNC NCBI

Linked Data

dbSNP Id: rs6525433
gnomAD v2: X-70073159-T-C
gnomAD v3: X-70853309-T-C
gnomAD v4: X-70853309-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70853309T>C , CM000685.2:g.70853309T>C GRCh38
NC_000023.10:g.70073159T>C , CM000685.1:g.70073159T>C GRCh37
NC_000023.9:g.69989884T>C NCBI36
NG_012574.1:g.60409A>G
NG_012574.2:g.60409A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374333.7:c.344A>G MANE Select ENSP00000363453.2:p.Lys115Arg
ENST00000344304.3:c.389A>G ENSP00000340995.3:p.Lys130Arg
ENST00000374333.6:c.344A>G ENSP00000363453.2:p.Lys115Arg
ENST00000395889.6:c.389A>G ENSP00000379226.2:p.Lys130Arg
NM_001003811.1:c.389A>G NP_001003811.1:p.Lys130Arg
NM_031276.2:c.344A>G NP_112566.2:p.Lys115Arg
XM_011530994.1:c.344A>G XP_011529296.1:p.Lys115Arg
XM_017029649.1:c.344A>G XP_016885138.1:p.Lys115Arg
NM_001003811.2:c.389A>G NP_001003811.1:p.Lys130Arg
NM_031276.3:c.344A>G MANE Select NP_112566.2:p.Lys115Arg