Canonical Allele Identifier: CA1747341072
Gene: TBXAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139962048C= , CM000669.2:g.139962048C= GRCh38
NC_000007.13:g.139661847C= , CM000669.1:g.139661847C= GRCh37
NC_000007.12:g.139308316C= NCBI36
NG_008422.2:g.188667C= , LRG_579:g.188667C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336425.10:c.949C= ENSP00000338087.7:p.His317=
ENST00000411653.6:c.949C= ENSP00000411326.3:p.His317=
ENST00000422328.6:c.*738C= ENSP00000415892.3:n.*738C=
ENST00000448866.7:c.949C= MANE Select ENSP00000402536.3:p.His317=
ENST00000458722.6:c.1087C= ENSP00000411274.3:p.His363=
ENST00000650822.1:c.952C= ENSP00000498517.1:p.His318=
ENST00000652056.1:c.952C= ENSP00000498271.1:p.His318=
ENST00000263552.10:c.952C= ENSP00000263552.6:p.His318=
ENST00000336425.9:c.949C= ENSP00000338087.5:p.His317=
ENST00000411653.5:c.949C= ENSP00000411326.1:p.His317=
ENST00000414508.6:c.952C= ENSP00000392702.2:p.His318=
ENST00000416849.6:c.1090C= ENSP00000389414.2:p.His364=
ENST00000422328.5:c.*738C= ENSP00000415892.1:n.*738C=
ENST00000425687.5:c.748C= ENSP00000388736.1:p.His250=
ENST00000448866.5:c.949C= ENSP00000402536.1:p.His317=
ENST00000458722.5:c.1087C= ENSP00000411274.1:p.His363=
ENST00000462275.5:n.920C=
ENST00000469630.1:n.432C=
ENST00000494876.1:n.314C=
NM_001061.4:c.952C= NP_001052.2:p.His318=
NM_001130966.2:c.952C= , LRG_579t1:c.952C= NP_001124438.1:p.His318=
NM_001166253.1:c.1090C= , LRG_579t4:c.1090C= NP_001159725.1:p.His364=
NM_001166254.1:c.748C= , LRG_579t3:c.748C= NP_001159726.1:p.His250=
NM_001314028.1:c.892C= NP_001300957.1:p.His298=
NM_030984.3:c.952C= , LRG_579t2:c.952C= NP_112246.2:p.His318=
NR_029394.1:c.-4294966080C=
XM_011516544.1:c.952C= XP_011514846.1:p.His318=
NM_001061.5:c.949C= NP_001052.3:p.His317=
NM_001130966.3:c.949C= NP_001124438.2:p.His317=
NM_001166253.2:c.1087C= NP_001159725.2:p.His363=
NM_001166254.2:c.748C= NP_001159726.1:p.His250=
NM_001314028.2:c.892C= NP_001300957.1:p.His298=
NM_001366537.1:c.766C= NP_001353466.1:p.His256=
NM_030984.4:c.949C= NP_112246.3:p.His317=
XM_011516544.3:c.952C= XP_011514846.1:p.His318=
XM_017012570.2:c.952C= XP_016868059.1:p.His318=
XM_017012571.2:c.952C= XP_016868060.1:p.His318=
XM_017012572.2:c.952C= XP_016868061.1:p.His318=
XM_024446901.1:c.694C= XP_024302669.1:p.His232=
NM_001061.7:c.949C= MANE Select NP_001052.3:p.His317=
NM_001130966.4:c.949C= NP_001124438.2:p.His317=
NM_001166253.3:c.1087C= NP_001159725.2:p.His363=
NM_001166254.3:c.748C= NP_001159726.1:p.His250=
NM_001314028.3:c.892C= NP_001300957.1:p.His298=
NM_001366537.2:c.766C= NP_001353466.1:p.His256=
NM_030984.5:c.949C= NP_112246.3:p.His317=
NM_001130966.5:c.949C= NP_001124438.2:p.His317=
NM_001166253.4:c.1087C= NP_001159725.2:p.His363=
NM_001166254.4:c.748C= NP_001159726.1:p.His250=
NM_001314028.4:c.892C= NP_001300957.1:p.His298=
NM_001366537.3:c.766C= NP_001353466.1:p.His256=
NM_030984.6:c.949C= NP_112246.3:p.His317=