Canonical Allele Identifier: CA1747341011
Gene: TBXAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139961936C= , CM000669.2:g.139961936C= GRCh38
NC_000007.13:g.139661735C= , CM000669.1:g.139661735C= GRCh37
NC_000007.12:g.139308204C= NCBI36
NG_008422.2:g.188555C= , LRG_579:g.188555C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336425.10:c.837C= ENSP00000338087.7:p.Leu279=
ENST00000411653.6:c.837C= ENSP00000411326.3:p.Leu279=
ENST00000422328.6:c.*626C= ENSP00000415892.3:n.*626C=
ENST00000448866.7:c.837C= MANE Select ENSP00000402536.3:p.Leu279=
ENST00000458722.6:c.975C= ENSP00000411274.3:p.Leu325=
ENST00000650822.1:c.840C= ENSP00000498517.1:p.Leu280=
ENST00000652056.1:c.840C= ENSP00000498271.1:p.Leu280=
ENST00000263552.10:c.840C= ENSP00000263552.6:p.Leu280=
ENST00000336425.9:c.837C= ENSP00000338087.5:p.Leu279=
ENST00000411653.5:c.837C= ENSP00000411326.1:p.Leu279=
ENST00000414508.6:c.840C= ENSP00000392702.2:p.Leu280=
ENST00000416849.6:c.978C= ENSP00000389414.2:p.Leu326=
ENST00000422328.5:c.*626C= ENSP00000415892.1:n.*626C=
ENST00000425687.5:c.636C= ENSP00000388736.1:p.Leu212=
ENST00000448866.5:c.837C= ENSP00000402536.1:p.Leu279=
ENST00000458722.5:c.975C= ENSP00000411274.1:p.Leu325=
ENST00000462275.5:n.808C=
ENST00000469630.1:n.320C=
ENST00000494876.1:n.202C=
NM_001061.4:c.840C= NP_001052.2:p.Leu280=
NM_001130966.2:c.840C= , LRG_579t1:c.840C= NP_001124438.1:p.Leu280=
NM_001166253.1:c.978C= , LRG_579t4:c.978C= NP_001159725.1:p.Leu326=
NM_001166254.1:c.636C= , LRG_579t3:c.636C= NP_001159726.1:p.Leu212=
NM_001314028.1:c.780C= NP_001300957.1:p.Leu260=
NM_030984.3:c.840C= , LRG_579t2:c.840C= NP_112246.2:p.Leu280=
NR_029394.1:c.-4294966192C=
XM_011516544.1:c.840C= XP_011514846.1:p.Leu280=
NM_001061.5:c.837C= NP_001052.3:p.Leu279=
NM_001130966.3:c.837C= NP_001124438.2:p.Leu279=
NM_001166253.2:c.975C= NP_001159725.2:p.Leu325=
NM_001166254.2:c.636C= NP_001159726.1:p.Leu212=
NM_001314028.2:c.780C= NP_001300957.1:p.Leu260=
NM_001366537.1:c.654C= NP_001353466.1:p.Leu218=
NM_030984.4:c.837C= NP_112246.3:p.Leu279=
XM_011516544.3:c.840C= XP_011514846.1:p.Leu280=
XM_017012570.2:c.840C= XP_016868059.1:p.Leu280=
XM_017012571.2:c.840C= XP_016868060.1:p.Leu280=
XM_017012572.2:c.840C= XP_016868061.1:p.Leu280=
XM_024446901.1:c.582C= XP_024302669.1:p.Leu194=
NM_001061.7:c.837C= MANE Select NP_001052.3:p.Leu279=
NM_001130966.4:c.837C= NP_001124438.2:p.Leu279=
NM_001166253.3:c.975C= NP_001159725.2:p.Leu325=
NM_001166254.3:c.636C= NP_001159726.1:p.Leu212=
NM_001314028.3:c.780C= NP_001300957.1:p.Leu260=
NM_001366537.2:c.654C= NP_001353466.1:p.Leu218=
NM_030984.5:c.837C= NP_112246.3:p.Leu279=
NM_001130966.5:c.837C= NP_001124438.2:p.Leu279=
NM_001166253.4:c.975C= NP_001159725.2:p.Leu325=
NM_001166254.4:c.636C= NP_001159726.1:p.Leu212=
NM_001314028.4:c.780C= NP_001300957.1:p.Leu260=
NM_001366537.3:c.654C= NP_001353466.1:p.Leu218=
NM_030984.6:c.837C= NP_112246.3:p.Leu279=