Canonical Allele Identifier: CA200231
Community Standard Title: NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr)
Gene: TEX11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70605421C>T , CM000685.2:g.70605421C>T GRCh38
NC_000023.10:g.69825271C>T , CM000685.1:g.69825271C>T GRCh37
NC_000023.9:g.69741996C>T NCBI36
NG_012574.1:g.308297G>A
NG_012574.2:g.308297G>A

Transcript Alleles

HGVS Amino-acid Change
NM_031276.3:c.2047G>A MANE Select NP_112566.2:p.Ala683Thr
ENST00000374333.7:c.2047G>A MANE Select ENSP00000363453.2:p.Ala683Thr
NM_001003811.1:c.2092G>A NP_001003811.1:p.Ala698Thr
NM_001003811.2:c.2092G>A NP_001003811.1:p.Ala698Thr
NM_031276.2:c.2047G>A NP_112566.2:p.Ala683Thr
ENST00000344304.3:c.2092G>A ENSP00000340995.3:p.Ala698Thr
ENST00000374320.6:c.1117G>A ENSP00000363440.2:p.Ala373Thr
ENST00000374333.6:c.2047G>A ENSP00000363453.2:p.Ala683Thr
ENST00000395889.6:c.2092G>A ENSP00000379226.2:p.Ala698Thr
XM_011530994.1:c.2047G>A XP_011529296.1:p.Ala683Thr
XM_011530995.1:c.1159G>A XP_011529297.1:p.Ala387Thr
XM_011530996.1:c.1117G>A XP_011529298.1:p.Ala373Thr
XM_017029649.1:c.2047G>A XP_016885138.1:p.Ala683Thr
XM_017029650.1:c.1159G>A XP_016885139.1:p.Ala387Thr
XM_017029651.1:c.1117G>A XP_016885140.1:p.Ala373Thr
XM_017029652.2:c.856G>A XP_016885141.1:p.Ala286Thr