Canonical Allele Identifier: CA458115462

Gene: TBXAS1

Linked Data

• ClinVar Variation Id: 1908635
• ClinVar RCV Id: RCV002584353
• dbSNP Id: rs1316620263
• gnomAD v2: 7-139661888-G-A
• gnomAD v4: 7-139962089-G-A
• MyVariant Identifiers: chr7:g.139661888G>A (hg19) ; chr7:g.139962089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139962089G>A , CM000669.2:g.139962089G>A	GRCh38
NC_000007.13:g.139661888G>A , CM000669.1:g.139661888G>A	GRCh37
NC_000007.12:g.139308357G>A	NCBI36
NG_008422.2:g.188708G>A , LRG_579:g.188708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.990G>A	ENSP00000338087.7:p.Glu330=
ENST00000411653.6:c.990G>A	ENSP00000411326.3:p.Glu330=
ENST00000422328.6:c.*779G>A	ENSP00000415892.3:n.*779G>A
ENST00000448866.7:c.990G>A MANE Select	ENSP00000402536.3:p.Glu330=
ENST00000458722.6:c.1128G>A	ENSP00000411274.3:p.Glu376=
ENST00000650822.1:c.993G>A	ENSP00000498517.1:p.Glu331=
ENST00000652056.1:c.993G>A	ENSP00000498271.1:p.Glu331=
ENST00000263552.10:c.993G>A	ENSP00000263552.6:p.Glu331=
ENST00000336425.9:c.990G>A	ENSP00000338087.5:p.Glu330=
ENST00000411653.5:c.990G>A	ENSP00000411326.1:p.Glu330=
ENST00000414508.6:c.993G>A	ENSP00000392702.2:p.Glu331=
ENST00000416849.6:c.1131G>A	ENSP00000389414.2:p.Glu377=
ENST00000422328.5:c.*779G>A	ENSP00000415892.1:n.*779G>A
ENST00000425687.5:c.789G>A	ENSP00000388736.1:p.Glu263=
ENST00000448866.5:c.990G>A	ENSP00000402536.1:p.Glu330=
ENST00000458722.5:c.1128G>A	ENSP00000411274.1:p.Glu376=
ENST00000462275.5:n.961G>A
ENST00000469630.1:n.473G>A
ENST00000494876.1:n.355G>A
NM_001061.4:c.993G>A	NP_001052.2:p.Glu331=
NM_001130966.2:c.993G>A , LRG_579t1:c.993G>A	NP_001124438.1:p.Glu331=
NM_001166253.1:c.1131G>A , LRG_579t4:c.1131G>A	NP_001159725.1:p.Glu377=
NM_001166254.1:c.789G>A , LRG_579t3:c.789G>A	NP_001159726.1:p.Glu263=
NM_001314028.1:c.933G>A	NP_001300957.1:p.Glu311=
NM_030984.3:c.993G>A , LRG_579t2:c.993G>A	NP_112246.2:p.Glu331=
NR_029394.1:c.-4294966039G>A
XM_011516544.1:c.993G>A	XP_011514846.1:p.Glu331=
NM_001061.5:c.990G>A	NP_001052.3:p.Glu330=
NM_001130966.3:c.990G>A	NP_001124438.2:p.Glu330=
NM_001166253.2:c.1128G>A	NP_001159725.2:p.Glu376=
NM_001166254.2:c.789G>A	NP_001159726.1:p.Glu263=
NM_001314028.2:c.933G>A	NP_001300957.1:p.Glu311=
NM_001366537.1:c.807G>A	NP_001353466.1:p.Glu269=
NM_030984.4:c.990G>A	NP_112246.3:p.Glu330=
XM_011516544.3:c.993G>A	XP_011514846.1:p.Glu331=
XM_017012570.2:c.993G>A	XP_016868059.1:p.Glu331=
XM_017012571.2:c.993G>A	XP_016868060.1:p.Glu331=
XM_017012572.2:c.993G>A	XP_016868061.1:p.Glu331=
XM_024446901.1:c.735G>A	XP_024302669.1:p.Glu245=
NM_001061.7:c.990G>A MANE Select	NP_001052.3:p.Glu330=
NM_001130966.4:c.990G>A	NP_001124438.2:p.Glu330=
NM_001166253.3:c.1128G>A	NP_001159725.2:p.Glu376=
NM_001166254.3:c.789G>A	NP_001159726.1:p.Glu263=
NM_001314028.3:c.933G>A	NP_001300957.1:p.Glu311=
NM_001366537.2:c.807G>A	NP_001353466.1:p.Glu269=
NM_030984.5:c.990G>A	NP_112246.3:p.Glu330=
NM_001130966.5:c.990G>A	NP_001124438.2:p.Glu330=
NM_001166253.4:c.1128G>A	NP_001159725.2:p.Glu376=
NM_001166254.4:c.789G>A	NP_001159726.1:p.Glu263=
NM_001314028.4:c.933G>A	NP_001300957.1:p.Glu311=
NM_001366537.3:c.807G>A	NP_001353466.1:p.Glu269=
NM_030984.6:c.990G>A	NP_112246.3:p.Glu330=