Canonical Allele Identifier: CA369584534
Gene: TBXAS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139962015T>G , CM000669.2:g.139962015T>G GRCh38
NC_000007.13:g.139661814T>G , CM000669.1:g.139661814T>G GRCh37
NC_000007.12:g.139308283T>G NCBI36
NG_008422.2:g.188634T>G , LRG_579:g.188634T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336425.10:c.916T>G ENSP00000338087.7:p.Ser306Ala
ENST00000411653.6:c.916T>G ENSP00000411326.3:p.Ser306Ala
ENST00000422328.6:c.*705T>G ENSP00000415892.3:n.*705T>G
ENST00000448866.7:c.916T>G MANE Select ENSP00000402536.3:p.Ser306Ala
ENST00000458722.6:c.1054T>G ENSP00000411274.3:p.Ser352Ala
ENST00000650822.1:c.919T>G ENSP00000498517.1:p.Ser307Ala
ENST00000652056.1:c.919T>G ENSP00000498271.1:p.Ser307Ala
ENST00000263552.10:c.919T>G ENSP00000263552.6:p.Ser307Ala
ENST00000336425.9:c.916T>G ENSP00000338087.5:p.Ser306Ala
ENST00000411653.5:c.916T>G ENSP00000411326.1:p.Ser306Ala
ENST00000414508.6:c.919T>G ENSP00000392702.2:p.Ser307Ala
ENST00000416849.6:c.1057T>G ENSP00000389414.2:p.Ser353Ala
ENST00000422328.5:c.*705T>G ENSP00000415892.1:n.*705T>G
ENST00000425687.5:c.715T>G ENSP00000388736.1:p.Ser239Ala
ENST00000448866.5:c.916T>G ENSP00000402536.1:p.Ser306Ala
ENST00000458722.5:c.1054T>G ENSP00000411274.1:p.Ser352Ala
ENST00000462275.5:n.887T>G
ENST00000469630.1:n.399T>G
ENST00000494876.1:n.281T>G
NM_001061.4:c.919T>G NP_001052.2:p.Ser307Ala
NM_001130966.2:c.919T>G , LRG_579t1:c.919T>G NP_001124438.1:p.Ser307Ala
NM_001166253.1:c.1057T>G , LRG_579t4:c.1057T>G NP_001159725.1:p.Ser353Ala
NM_001166254.1:c.715T>G , LRG_579t3:c.715T>G NP_001159726.1:p.Ser239Ala
NM_001314028.1:c.859T>G NP_001300957.1:p.Ser287Ala
NM_030984.3:c.919T>G , LRG_579t2:c.919T>G NP_112246.2:p.Ser307Ala
NR_029394.1:c.-4294966113T>G
XM_011516544.1:c.919T>G XP_011514846.1:p.Ser307Ala
NM_001061.5:c.916T>G NP_001052.3:p.Ser306Ala
NM_001130966.3:c.916T>G NP_001124438.2:p.Ser306Ala
NM_001166253.2:c.1054T>G NP_001159725.2:p.Ser352Ala
NM_001166254.2:c.715T>G NP_001159726.1:p.Ser239Ala
NM_001314028.2:c.859T>G NP_001300957.1:p.Ser287Ala
NM_001366537.1:c.733T>G NP_001353466.1:p.Ser245Ala
NM_030984.4:c.916T>G NP_112246.3:p.Ser306Ala
XM_011516544.3:c.919T>G XP_011514846.1:p.Ser307Ala
XM_017012570.2:c.919T>G XP_016868059.1:p.Ser307Ala
XM_017012571.2:c.919T>G XP_016868060.1:p.Ser307Ala
XM_017012572.2:c.919T>G XP_016868061.1:p.Ser307Ala
XM_024446901.1:c.661T>G XP_024302669.1:p.Ser221Ala
NM_001061.7:c.916T>G MANE Select NP_001052.3:p.Ser306Ala
NM_001130966.4:c.916T>G NP_001124438.2:p.Ser306Ala
NM_001166253.3:c.1054T>G NP_001159725.2:p.Ser352Ala
NM_001166254.3:c.715T>G NP_001159726.1:p.Ser239Ala
NM_001314028.3:c.859T>G NP_001300957.1:p.Ser287Ala
NM_001366537.2:c.733T>G NP_001353466.1:p.Ser245Ala
NM_030984.5:c.916T>G NP_112246.3:p.Ser306Ala
NM_001130966.5:c.916T>G NP_001124438.2:p.Ser306Ala
NM_001166253.4:c.1054T>G NP_001159725.2:p.Ser352Ala
NM_001166254.4:c.715T>G NP_001159726.1:p.Ser239Ala
NM_001314028.4:c.859T>G NP_001300957.1:p.Ser287Ala
NM_001366537.3:c.733T>G NP_001353466.1:p.Ser245Ala
NM_030984.6:c.916T>G NP_112246.3:p.Ser306Ala