Canonical Allele Identifier: CA167947704

Gene: TBXAS1

Linked Data

• dbSNP Id: rs372928270
• gnomAD v2: 7-139611041-G-A
• gnomAD v3: 7-139911242-G-A
• gnomAD v4: 7-139911242-G-A
• COSMIC: COSM204919
• MyVariant Identifiers: chr7:g.139611041G>A (hg19) ; chr7:g.139911242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139911242G>A , CM000669.2:g.139911242G>A	GRCh38
NC_000007.13:g.139611041G>A , CM000669.1:g.139611041G>A	GRCh37
NC_000007.12:g.139257510G>A	NCBI36
NG_008422.2:g.137861G>A , LRG_579:g.137861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.254G>A	ENSP00000338087.7:p.Arg85Gln
ENST00000411653.6:c.254G>A	ENSP00000411326.3:p.Arg85Gln
ENST00000414041.2:c.*109G>A	ENSP00000412710.3:n.*109G>A
ENST00000422328.6:c.*43G>A	ENSP00000415892.3:n.*43G>A
ENST00000438104.6:c.254G>A	ENSP00000388612.3:p.Arg85Gln
ENST00000448866.7:c.254G>A MANE Select	ENSP00000402536.3:p.Arg85Gln
ENST00000455353.6:c.254G>A	ENSP00000391567.3:p.Arg85Gln
ENST00000458722.6:c.254G>A	ENSP00000411274.3:p.Arg85Gln
ENST00000650822.1:c.257G>A	ENSP00000498517.1:p.Arg86Gln
ENST00000652056.1:c.257G>A	ENSP00000498271.1:p.Arg86Gln
ENST00000263552.10:c.257G>A	ENSP00000263552.6:p.Arg86Gln
ENST00000336425.9:c.254G>A	ENSP00000338087.5:p.Arg85Gln
ENST00000411653.5:c.254G>A	ENSP00000411326.1:p.Arg85Gln
ENST00000414041.1:c.*109G>A	ENSP00000412710.1:n.*109G>A
ENST00000414508.6:c.257G>A	ENSP00000392702.2:p.Arg86Gln
ENST00000416849.6:c.257G>A	ENSP00000389414.2:p.Arg86Gln
ENST00000422328.5:c.*43G>A	ENSP00000415892.1:n.*43G>A
ENST00000425687.5:c.53G>A	ENSP00000388736.1:p.Arg18Gln
ENST00000438104.5:c.254G>A	ENSP00000388612.1:p.Arg85Gln
ENST00000448866.5:c.254G>A	ENSP00000402536.1:p.Arg85Gln
ENST00000455353.5:c.254G>A	ENSP00000391567.1:p.Arg85Gln
ENST00000458722.5:c.254G>A	ENSP00000411274.1:p.Arg85Gln
ENST00000462275.5:n.225G>A
ENST00000476637.5:n.357-24949G>A
NM_001061.4:c.257G>A	NP_001052.2:p.Arg86Gln
NM_001130966.2:c.257G>A , LRG_579t1:c.257G>A	NP_001124438.1:p.Arg86Gln
NM_001166253.1:c.257G>A , LRG_579t4:c.257G>A	NP_001159725.1:p.Arg86Gln
NM_001166254.1:c.53G>A , LRG_579t3:c.53G>A	NP_001159726.1:p.Arg18Gln
NM_001314028.1:c.197G>A	NP_001300957.1:p.Arg66Gln
NM_030984.3:c.257G>A , LRG_579t2:c.257G>A	NP_112246.2:p.Arg86Gln
NR_029394.1:c.-4294966775G>A
XM_011516544.1:c.257G>A	XP_011514846.1:p.Arg86Gln
NM_001061.5:c.254G>A	NP_001052.3:p.Arg85Gln
NM_001130966.3:c.254G>A	NP_001124438.2:p.Arg85Gln
NM_001166253.2:c.254G>A	NP_001159725.2:p.Arg85Gln
NM_001166254.2:c.53G>A	NP_001159726.1:p.Arg18Gln
NM_001314028.2:c.197G>A	NP_001300957.1:p.Arg66Gln
NM_001366537.1:c.151-24949G>A	NP_001353466.1:n.151-24949G>A
NM_001366538.1:c.254G>A	NP_001353467.1:p.Arg85Gln
NM_030984.4:c.254G>A	NP_112246.3:p.Arg85Gln
XM_011516544.3:c.257G>A	XP_011514846.1:p.Arg86Gln
XM_017012570.2:c.257G>A	XP_016868059.1:p.Arg86Gln
XM_017012571.2:c.257G>A	XP_016868060.1:p.Arg86Gln
XM_017012572.2:c.257G>A	XP_016868061.1:p.Arg86Gln
XM_024446901.1:c.-2G>A	XP_024302669.1:n.-2G>A
NM_001061.7:c.254G>A MANE Select	NP_001052.3:p.Arg85Gln
NM_001130966.4:c.254G>A	NP_001124438.2:p.Arg85Gln
NM_001166253.3:c.254G>A	NP_001159725.2:p.Arg85Gln
NM_001166254.3:c.53G>A	NP_001159726.1:p.Arg18Gln
NM_001314028.3:c.197G>A	NP_001300957.1:p.Arg66Gln
NM_001366537.2:c.151-24949G>A	NP_001353466.1:n.151-24949G>A
NM_001366538.2:c.254G>A	NP_001353467.1:p.Arg85Gln
NM_030984.5:c.254G>A	NP_112246.3:p.Arg85Gln
NM_001130966.5:c.254G>A	NP_001124438.2:p.Arg85Gln
NM_001166253.4:c.254G>A	NP_001159725.2:p.Arg85Gln
NM_001166254.4:c.53G>A	NP_001159726.1:p.Arg18Gln
NM_001314028.4:c.197G>A	NP_001300957.1:p.Arg66Gln
NM_001366537.3:c.151-24949G>A	NP_001353466.1:n.151-24949G>A
NM_030984.6:c.254G>A	NP_112246.3:p.Arg85Gln