Canonical Allele Identifier: CA369583938
Gene: TBXAS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139961934C>T , CM000669.2:g.139961934C>T GRCh38
NC_000007.13:g.139661733C>T , CM000669.1:g.139661733C>T GRCh37
NC_000007.12:g.139308202C>T NCBI36
NG_008422.2:g.188553C>T , LRG_579:g.188553C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336425.10:c.835C>T ENSP00000338087.7:p.Leu279Phe
ENST00000411653.6:c.835C>T ENSP00000411326.3:p.Leu279Phe
ENST00000422328.6:c.*624C>T ENSP00000415892.3:n.*624C>T
ENST00000448866.7:c.835C>T MANE Select ENSP00000402536.3:p.Leu279Phe
ENST00000458722.6:c.973C>T ENSP00000411274.3:p.Leu325Phe
ENST00000650822.1:c.838C>T ENSP00000498517.1:p.Leu280Phe
ENST00000652056.1:c.838C>T ENSP00000498271.1:p.Leu280Phe
ENST00000263552.10:c.838C>T ENSP00000263552.6:p.Leu280Phe
ENST00000336425.9:c.835C>T ENSP00000338087.5:p.Leu279Phe
ENST00000411653.5:c.835C>T ENSP00000411326.1:p.Leu279Phe
ENST00000414508.6:c.838C>T ENSP00000392702.2:p.Leu280Phe
ENST00000416849.6:c.976C>T ENSP00000389414.2:p.Leu326Phe
ENST00000422328.5:c.*624C>T ENSP00000415892.1:n.*624C>T
ENST00000425687.5:c.634C>T ENSP00000388736.1:p.Leu212Phe
ENST00000448866.5:c.835C>T ENSP00000402536.1:p.Leu279Phe
ENST00000458722.5:c.973C>T ENSP00000411274.1:p.Leu325Phe
ENST00000462275.5:n.806C>T
ENST00000469630.1:n.318C>T
ENST00000494876.1:n.200C>T
NM_001061.4:c.838C>T NP_001052.2:p.Leu280Phe
NM_001130966.2:c.838C>T , LRG_579t1:c.838C>T NP_001124438.1:p.Leu280Phe
NM_001166253.1:c.976C>T , LRG_579t4:c.976C>T NP_001159725.1:p.Leu326Phe
NM_001166254.1:c.634C>T , LRG_579t3:c.634C>T NP_001159726.1:p.Leu212Phe
NM_001314028.1:c.778C>T NP_001300957.1:p.Leu260Phe
NM_030984.3:c.838C>T , LRG_579t2:c.838C>T NP_112246.2:p.Leu280Phe
NR_029394.1:c.-4294966194C>T
XM_011516544.1:c.838C>T XP_011514846.1:p.Leu280Phe
NM_001061.5:c.835C>T NP_001052.3:p.Leu279Phe
NM_001130966.3:c.835C>T NP_001124438.2:p.Leu279Phe
NM_001166253.2:c.973C>T NP_001159725.2:p.Leu325Phe
NM_001166254.2:c.634C>T NP_001159726.1:p.Leu212Phe
NM_001314028.2:c.778C>T NP_001300957.1:p.Leu260Phe
NM_001366537.1:c.652C>T NP_001353466.1:p.Leu218Phe
NM_030984.4:c.835C>T NP_112246.3:p.Leu279Phe
XM_011516544.3:c.838C>T XP_011514846.1:p.Leu280Phe
XM_017012570.2:c.838C>T XP_016868059.1:p.Leu280Phe
XM_017012571.2:c.838C>T XP_016868060.1:p.Leu280Phe
XM_017012572.2:c.838C>T XP_016868061.1:p.Leu280Phe
XM_024446901.1:c.580C>T XP_024302669.1:p.Leu194Phe
NM_001061.7:c.835C>T MANE Select NP_001052.3:p.Leu279Phe
NM_001130966.4:c.835C>T NP_001124438.2:p.Leu279Phe
NM_001166253.3:c.973C>T NP_001159725.2:p.Leu325Phe
NM_001166254.3:c.634C>T NP_001159726.1:p.Leu212Phe
NM_001314028.3:c.778C>T NP_001300957.1:p.Leu260Phe
NM_001366537.2:c.652C>T NP_001353466.1:p.Leu218Phe
NM_030984.5:c.835C>T NP_112246.3:p.Leu279Phe
NM_001130966.5:c.835C>T NP_001124438.2:p.Leu279Phe
NM_001166253.4:c.973C>T NP_001159725.2:p.Leu325Phe
NM_001166254.4:c.634C>T NP_001159726.1:p.Leu212Phe
NM_001314028.4:c.778C>T NP_001300957.1:p.Leu260Phe
NM_001366537.3:c.652C>T NP_001353466.1:p.Leu218Phe
NM_030984.6:c.835C>T NP_112246.3:p.Leu279Phe