Canonical Allele Identifier: CA457968005

Gene: TBXAS1

Linked Data

• dbSNP Id: rs150820501
• gnomAD v2: 7-139717477-G-T
• gnomAD v4: 7-140017677-G-T
• MyVariant Identifiers: chr7:g.139717477G>T (hg19) ; chr7:g.140017677G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140017677G>T , CM000669.2:g.140017677G>T	GRCh38
NC_000007.13:g.139717477G>T , CM000669.1:g.139717477G>T	GRCh37
NC_000007.12:g.139363946G>T	NCBI36
NG_008422.2:g.244296G>T , LRG_579:g.244296G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336425.10:c.1371G>T	ENSP00000338087.7:p.Thr457=
ENST00000411653.6:c.1364+1817G>T	ENSP00000411326.3:n.1364+1817G>T
ENST00000422328.6:c.*1160G>T	ENSP00000415892.3:n.*1160G>T
ENST00000448866.7:c.1371G>T MANE Select	ENSP00000402536.3:p.Thr457=
ENST00000458722.6:c.1509G>T	ENSP00000411274.3:p.Thr503=
ENST00000650822.1:c.1374G>T	ENSP00000498517.1:p.Thr458=
ENST00000652056.1:c.1367+1817G>T	ENSP00000498271.1:n.1367+1817G>T
ENST00000263552.10:c.1374G>T	ENSP00000263552.6:p.Thr458=
ENST00000336425.9:c.1371G>T	ENSP00000338087.5:p.Thr457=
ENST00000411653.5:c.1364+1817G>T	ENSP00000411326.1:n.1364+1817G>T
ENST00000414508.6:c.1367+1817G>T	ENSP00000392702.2:n.1367+1817G>T
ENST00000416849.6:c.1512G>T	ENSP00000389414.2:p.Thr504=
ENST00000422328.5:c.*1160G>T	ENSP00000415892.1:n.*1160G>T
ENST00000425687.5:c.1170G>T	ENSP00000388736.1:p.Thr390=
ENST00000448866.5:c.1371G>T	ENSP00000402536.1:p.Thr457=
ENST00000458722.5:c.1509G>T	ENSP00000411274.1:p.Thr503=
NM_001061.4:c.1374G>T	NP_001052.2:p.Thr458=
NM_001130966.2:c.1374G>T , LRG_579t1:c.1374G>T	NP_001124438.1:p.Thr458=
NM_001166253.1:c.1512G>T , LRG_579t4:c.1512G>T	NP_001159725.1:p.Thr504=
NM_001166254.1:c.1170G>T , LRG_579t3:c.1170G>T	NP_001159726.1:p.Thr390=
NM_001314028.1:c.1314G>T	NP_001300957.1:p.Thr438=
NM_030984.3:c.1367+1817G>T , LRG_579t2:c.1367+1817G>T	NP_112246.2:n.1367+1817G>T
NR_029394.1:c.-4294965658G>T
NM_001061.5:c.1371G>T	NP_001052.3:p.Thr457=
NM_001130966.3:c.1371G>T	NP_001124438.2:p.Thr457=
NM_001166253.2:c.1509G>T	NP_001159725.2:p.Thr503=
NM_001166254.2:c.1170G>T	NP_001159726.1:p.Thr390=
NM_001314028.2:c.1314G>T	NP_001300957.1:p.Thr438=
NM_001366537.1:c.1188G>T	NP_001353466.1:p.Thr396=
NM_030984.4:c.1364+1817G>T	NP_112246.3:n.1364+1817G>T
XM_024446901.1:c.1116G>T	XP_024302669.1:p.Thr372=
NM_001061.7:c.1371G>T MANE Select	NP_001052.3:p.Thr457=
NM_001130966.4:c.1371G>T	NP_001124438.2:p.Thr457=
NM_001166253.3:c.1509G>T	NP_001159725.2:p.Thr503=
NM_001166254.3:c.1170G>T	NP_001159726.1:p.Thr390=
NM_001314028.3:c.1314G>T	NP_001300957.1:p.Thr438=
NM_001366537.2:c.1188G>T	NP_001353466.1:p.Thr396=
NM_030984.5:c.1364+1817G>T	NP_112246.3:n.1364+1817G>T
NM_001130966.5:c.1371G>T	NP_001124438.2:p.Thr457=
NM_001166253.4:c.1509G>T	NP_001159725.2:p.Thr503=
NM_001166254.4:c.1170G>T	NP_001159726.1:p.Thr390=
NM_001314028.4:c.1314G>T	NP_001300957.1:p.Thr438=
NM_001366537.3:c.1188G>T	NP_001353466.1:p.Thr396=
NM_030984.6:c.1364+1817G>T	NP_112246.3:n.1364+1817G>T