Canonical Allele Identifier: CA369583824
Gene: TBXAS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139961920G>C , CM000669.2:g.139961920G>C GRCh38
NC_000007.13:g.139661719G>C , CM000669.1:g.139661719G>C GRCh37
NC_000007.12:g.139308188G>C NCBI36
NG_008422.2:g.188539G>C , LRG_579:g.188539G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000336425.10:c.821G>C ENSP00000338087.7:p.Arg274Thr
ENST00000411653.6:c.821G>C ENSP00000411326.3:p.Arg274Thr
ENST00000422328.6:c.*610G>C ENSP00000415892.3:n.*610G>C
ENST00000448866.7:c.821G>C MANE Select ENSP00000402536.3:p.Arg274Thr
ENST00000458722.6:c.959G>C ENSP00000411274.3:p.Arg320Thr
ENST00000650822.1:c.824G>C ENSP00000498517.1:p.Arg275Thr
ENST00000652056.1:c.824G>C ENSP00000498271.1:p.Arg275Thr
ENST00000263552.10:c.824G>C ENSP00000263552.6:p.Arg275Thr
ENST00000336425.9:c.821G>C ENSP00000338087.5:p.Arg274Thr
ENST00000411653.5:c.821G>C ENSP00000411326.1:p.Arg274Thr
ENST00000414508.6:c.824G>C ENSP00000392702.2:p.Arg275Thr
ENST00000416849.6:c.962G>C ENSP00000389414.2:p.Arg321Thr
ENST00000422328.5:c.*610G>C ENSP00000415892.1:n.*610G>C
ENST00000425687.5:c.620G>C ENSP00000388736.1:p.Arg207Thr
ENST00000448866.5:c.821G>C ENSP00000402536.1:p.Arg274Thr
ENST00000458722.5:c.959G>C ENSP00000411274.1:p.Arg320Thr
ENST00000462275.5:n.792G>C
ENST00000469630.1:n.304G>C
ENST00000494876.1:n.186G>C
NM_001061.4:c.824G>C NP_001052.2:p.Arg275Thr
NM_001130966.2:c.824G>C , LRG_579t1:c.824G>C NP_001124438.1:p.Arg275Thr
NM_001166253.1:c.962G>C , LRG_579t4:c.962G>C NP_001159725.1:p.Arg321Thr
NM_001166254.1:c.620G>C , LRG_579t3:c.620G>C NP_001159726.1:p.Arg207Thr
NM_001314028.1:c.764G>C NP_001300957.1:p.Arg255Thr
NM_030984.3:c.824G>C , LRG_579t2:c.824G>C NP_112246.2:p.Arg275Thr
NR_029394.1:c.-4294966208G>C
XM_011516544.1:c.824G>C XP_011514846.1:p.Arg275Thr
NM_001061.5:c.821G>C NP_001052.3:p.Arg274Thr
NM_001130966.3:c.821G>C NP_001124438.2:p.Arg274Thr
NM_001166253.2:c.959G>C NP_001159725.2:p.Arg320Thr
NM_001166254.2:c.620G>C NP_001159726.1:p.Arg207Thr
NM_001314028.2:c.764G>C NP_001300957.1:p.Arg255Thr
NM_001366537.1:c.638G>C NP_001353466.1:p.Arg213Thr
NM_030984.4:c.821G>C NP_112246.3:p.Arg274Thr
XM_011516544.3:c.824G>C XP_011514846.1:p.Arg275Thr
XM_017012570.2:c.824G>C XP_016868059.1:p.Arg275Thr
XM_017012571.2:c.824G>C XP_016868060.1:p.Arg275Thr
XM_017012572.2:c.824G>C XP_016868061.1:p.Arg275Thr
XM_024446901.1:c.566G>C XP_024302669.1:p.Arg189Thr
NM_001061.7:c.821G>C MANE Select NP_001052.3:p.Arg274Thr
NM_001130966.4:c.821G>C NP_001124438.2:p.Arg274Thr
NM_001166253.3:c.959G>C NP_001159725.2:p.Arg320Thr
NM_001166254.3:c.620G>C NP_001159726.1:p.Arg207Thr
NM_001314028.3:c.764G>C NP_001300957.1:p.Arg255Thr
NM_001366537.2:c.638G>C NP_001353466.1:p.Arg213Thr
NM_030984.5:c.821G>C NP_112246.3:p.Arg274Thr
NM_001130966.5:c.821G>C NP_001124438.2:p.Arg274Thr
NM_001166253.4:c.959G>C NP_001159725.2:p.Arg320Thr
NM_001166254.4:c.620G>C NP_001159726.1:p.Arg207Thr
NM_001314028.4:c.764G>C NP_001300957.1:p.Arg255Thr
NM_001366537.3:c.638G>C NP_001353466.1:p.Arg213Thr
NM_030984.6:c.821G>C NP_112246.3:p.Arg274Thr