Canonical Allele Identifier: CA369517313

Gene: TBXAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140015731G>T , CM000669.2:g.140015731G>T	GRCh38
NC_000007.13:g.139715531G>T , CM000669.1:g.139715531G>T	GRCh37
NC_000007.12:g.139362000G>T	NCBI36
NG_008422.2:g.242350G>T , LRG_579:g.242350G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.1235G>T	ENSP00000338087.7:p.Arg412Leu
ENST00000411653.6:c.1235G>T	ENSP00000411326.3:p.Arg412Leu
ENST00000422328.6:c.*1024G>T	ENSP00000415892.3:n.*1024G>T
ENST00000448866.7:c.1235G>T MANE Select	ENSP00000402536.3:p.Arg412Leu
ENST00000458722.6:c.1373G>T	ENSP00000411274.3:p.Arg458Leu
ENST00000650822.1:c.1238G>T	ENSP00000498517.1:p.Arg413Leu
ENST00000652056.1:c.1238G>T	ENSP00000498271.1:p.Arg413Leu
ENST00000263552.10:c.1238G>T	ENSP00000263552.6:p.Arg413Leu
ENST00000336425.9:c.1235G>T	ENSP00000338087.5:p.Arg412Leu
ENST00000411653.5:c.1235G>T	ENSP00000411326.1:p.Arg412Leu
ENST00000414508.6:c.1238G>T	ENSP00000392702.2:p.Arg413Leu
ENST00000416849.6:c.1376G>T	ENSP00000389414.2:p.Arg459Leu
ENST00000422328.5:c.*1024G>T	ENSP00000415892.1:n.*1024G>T
ENST00000425687.5:c.1034G>T	ENSP00000388736.1:p.Arg345Leu
ENST00000448866.5:c.1235G>T	ENSP00000402536.1:p.Arg412Leu
ENST00000458722.5:c.1373G>T	ENSP00000411274.1:p.Arg458Leu
ENST00000462275.5:n.1206G>T
NM_001061.4:c.1238G>T	NP_001052.2:p.Arg413Leu
NM_001130966.2:c.1238G>T , LRG_579t1:c.1238G>T	NP_001124438.1:p.Arg413Leu
NM_001166253.1:c.1376G>T , LRG_579t4:c.1376G>T	NP_001159725.1:p.Arg459Leu
NM_001166254.1:c.1034G>T , LRG_579t3:c.1034G>T	NP_001159726.1:p.Arg345Leu
NM_001314028.1:c.1178G>T	NP_001300957.1:p.Arg393Leu
NM_030984.3:c.1238G>T , LRG_579t2:c.1238G>T	NP_112246.2:p.Arg413Leu
NR_029394.1:c.-4294965794G>T
XM_011516544.1:c.1238G>T	XP_011514846.1:p.Arg413Leu
NM_001061.5:c.1235G>T	NP_001052.3:p.Arg412Leu
NM_001130966.3:c.1235G>T	NP_001124438.2:p.Arg412Leu
NM_001166253.2:c.1373G>T	NP_001159725.2:p.Arg458Leu
NM_001166254.2:c.1034G>T	NP_001159726.1:p.Arg345Leu
NM_001314028.2:c.1178G>T	NP_001300957.1:p.Arg393Leu
NM_001366537.1:c.1052G>T	NP_001353466.1:p.Arg351Leu
NM_030984.4:c.1235G>T	NP_112246.3:p.Arg412Leu
XM_011516544.3:c.1238G>T	XP_011514846.1:p.Arg413Leu
XM_024446901.1:c.980G>T	XP_024302669.1:p.Arg327Leu
NM_001061.7:c.1235G>T MANE Select	NP_001052.3:p.Arg412Leu
NM_001130966.4:c.1235G>T	NP_001124438.2:p.Arg412Leu
NM_001166253.3:c.1373G>T	NP_001159725.2:p.Arg458Leu
NM_001166254.3:c.1034G>T	NP_001159726.1:p.Arg345Leu
NM_001314028.3:c.1178G>T	NP_001300957.1:p.Arg393Leu
NM_001366537.2:c.1052G>T	NP_001353466.1:p.Arg351Leu
NM_030984.5:c.1235G>T	NP_112246.3:p.Arg412Leu
NM_001130966.5:c.1235G>T	NP_001124438.2:p.Arg412Leu
NM_001166253.4:c.1373G>T	NP_001159725.2:p.Arg458Leu
NM_001166254.4:c.1034G>T	NP_001159726.1:p.Arg345Leu
NM_001314028.4:c.1178G>T	NP_001300957.1:p.Arg393Leu
NM_001366537.3:c.1052G>T	NP_001353466.1:p.Arg351Leu
NM_030984.6:c.1235G>T	NP_112246.3:p.Arg412Leu