Canonical Allele Identifier: CA516759711
Gene: TEX11 HGNC NCBI

Linked Data

gnomAD v4: X-70853141-A-G
MyVariant Identifiers: chrX:g.70072991A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70853141A>G , CM000685.2:g.70853141A>G GRCh38
NC_000023.10:g.70072991A>G , CM000685.1:g.70072991A>G GRCh37
NC_000023.9:g.69989716A>G NCBI36
NG_012574.1:g.60577T>C
NG_012574.2:g.60577T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374333.7:c.418T>C MANE Select ENSP00000363453.2:p.Leu140=
ENST00000344304.3:c.463T>C ENSP00000340995.3:p.Leu155=
ENST00000374333.6:c.418T>C ENSP00000363453.2:p.Leu140=
ENST00000395889.6:c.463T>C ENSP00000379226.2:p.Leu155=
NM_001003811.1:c.463T>C NP_001003811.1:p.Leu155=
NM_031276.2:c.418T>C NP_112566.2:p.Leu140=
XM_011530994.1:c.418T>C XP_011529296.1:p.Leu140=
XM_017029649.1:c.418T>C XP_016885138.1:p.Leu140=
NM_001003811.2:c.463T>C NP_001003811.1:p.Leu155=
NM_031276.3:c.418T>C MANE Select NP_112566.2:p.Leu140=