Canonical Allele Identifier: CA482139115

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114793493G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355688G>C , CM000674.2:g.114355688G>C	GRCh38
NC_000012.11:g.114793493G>C , CM000674.1:g.114793493G>C	GRCh37
NC_000012.10:g.113277876G>C	NCBI36
NG_007373.1:g.57755C>G , LRG_670:g.57755C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.1401C>G MANE Select	ENSP00000384152.3:p.Val467=
ENST00000310346.8:c.1401C>G	ENSP00000309913.4:p.Val467=
ENST00000349716.9:c.1251C>G	ENSP00000337723.5:p.Val417=
ENST00000405440.6:c.1401C>G	ENSP00000384152.2:p.Val467=
NM_000192.3:c.1401C>G , LRG_670t1:c.1401C>G	NP_000183.2:p.Val467=
NM_080717.2:c.1251C>G	NP_542448.1:p.Val417=
NM_181486.2:c.1401C>G	NP_852259.1:p.Val467=
XM_017019912.1:c.1449C>G	XP_016875401.1:p.Val483=
NM_080717.3:c.1251C>G	NP_542448.1:p.Val417=
NM_181486.4:c.1401C>G MANE Select	NP_852259.1:p.Val467=
NM_080717.4:c.1251C>G	NP_542448.1:p.Val417=