Canonical Allele Identifier: CA369584117
Gene: TBXAS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139961969T>G , CM000669.2:g.139961969T>G GRCh38
NC_000007.13:g.139661768T>G , CM000669.1:g.139661768T>G GRCh37
NC_000007.12:g.139308237T>G NCBI36
NG_008422.2:g.188588T>G , LRG_579:g.188588T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336425.10:c.870T>G ENSP00000338087.7:p.Ser290Arg
ENST00000411653.6:c.870T>G ENSP00000411326.3:p.Ser290Arg
ENST00000422328.6:c.*659T>G ENSP00000415892.3:n.*659T>G
ENST00000448866.7:c.870T>G MANE Select ENSP00000402536.3:p.Ser290Arg
ENST00000458722.6:c.1008T>G ENSP00000411274.3:p.Ser336Arg
ENST00000650822.1:c.873T>G ENSP00000498517.1:p.Ser291Arg
ENST00000652056.1:c.873T>G ENSP00000498271.1:p.Ser291Arg
ENST00000263552.10:c.873T>G ENSP00000263552.6:p.Ser291Arg
ENST00000336425.9:c.870T>G ENSP00000338087.5:p.Ser290Arg
ENST00000411653.5:c.870T>G ENSP00000411326.1:p.Ser290Arg
ENST00000414508.6:c.873T>G ENSP00000392702.2:p.Ser291Arg
ENST00000416849.6:c.1011T>G ENSP00000389414.2:p.Ser337Arg
ENST00000422328.5:c.*659T>G ENSP00000415892.1:n.*659T>G
ENST00000425687.5:c.669T>G ENSP00000388736.1:p.Ser223Arg
ENST00000448866.5:c.870T>G ENSP00000402536.1:p.Ser290Arg
ENST00000458722.5:c.1008T>G ENSP00000411274.1:p.Ser336Arg
ENST00000462275.5:n.841T>G
ENST00000469630.1:n.353T>G
ENST00000494876.1:n.235T>G
NM_001061.4:c.873T>G NP_001052.2:p.Ser291Arg
NM_001130966.2:c.873T>G , LRG_579t1:c.873T>G NP_001124438.1:p.Ser291Arg
NM_001166253.1:c.1011T>G , LRG_579t4:c.1011T>G NP_001159725.1:p.Ser337Arg
NM_001166254.1:c.669T>G , LRG_579t3:c.669T>G NP_001159726.1:p.Ser223Arg
NM_001314028.1:c.813T>G NP_001300957.1:p.Ser271Arg
NM_030984.3:c.873T>G , LRG_579t2:c.873T>G NP_112246.2:p.Ser291Arg
NR_029394.1:c.-4294966159T>G
XM_011516544.1:c.873T>G XP_011514846.1:p.Ser291Arg
NM_001061.5:c.870T>G NP_001052.3:p.Ser290Arg
NM_001130966.3:c.870T>G NP_001124438.2:p.Ser290Arg
NM_001166253.2:c.1008T>G NP_001159725.2:p.Ser336Arg
NM_001166254.2:c.669T>G NP_001159726.1:p.Ser223Arg
NM_001314028.2:c.813T>G NP_001300957.1:p.Ser271Arg
NM_001366537.1:c.687T>G NP_001353466.1:p.Ser229Arg
NM_030984.4:c.870T>G NP_112246.3:p.Ser290Arg
XM_011516544.3:c.873T>G XP_011514846.1:p.Ser291Arg
XM_017012570.2:c.873T>G XP_016868059.1:p.Ser291Arg
XM_017012571.2:c.873T>G XP_016868060.1:p.Ser291Arg
XM_017012572.2:c.873T>G XP_016868061.1:p.Ser291Arg
XM_024446901.1:c.615T>G XP_024302669.1:p.Ser205Arg
NM_001061.7:c.870T>G MANE Select NP_001052.3:p.Ser290Arg
NM_001130966.4:c.870T>G NP_001124438.2:p.Ser290Arg
NM_001166253.3:c.1008T>G NP_001159725.2:p.Ser336Arg
NM_001166254.3:c.669T>G NP_001159726.1:p.Ser223Arg
NM_001314028.3:c.813T>G NP_001300957.1:p.Ser271Arg
NM_001366537.2:c.687T>G NP_001353466.1:p.Ser229Arg
NM_030984.5:c.870T>G NP_112246.3:p.Ser290Arg
NM_001130966.5:c.870T>G NP_001124438.2:p.Ser290Arg
NM_001166253.4:c.1008T>G NP_001159725.2:p.Ser336Arg
NM_001166254.4:c.669T>G NP_001159726.1:p.Ser223Arg
NM_001314028.4:c.813T>G NP_001300957.1:p.Ser271Arg
NM_001366537.3:c.687T>G NP_001353466.1:p.Ser229Arg
NM_030984.6:c.870T>G NP_112246.3:p.Ser290Arg