Canonical Allele Identifier: CA386925139

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114793491C>G (hg19) ; chr12:g.114355686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355686C>G , CM000674.2:g.114355686C>G	GRCh38
NC_000012.11:g.114793491C>G , CM000674.1:g.114793491C>G	GRCh37
NC_000012.10:g.113277874C>G	NCBI36
NG_007373.1:g.57757G>C , LRG_670:g.57757G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.1403G>C MANE Select	ENSP00000384152.3:p.Arg468Thr
ENST00000310346.8:c.1403G>C	ENSP00000309913.4:p.Arg468Thr
ENST00000349716.9:c.1253G>C	ENSP00000337723.5:p.Arg418Thr
ENST00000405440.6:c.1403G>C	ENSP00000384152.2:p.Arg468Thr
NM_000192.3:c.1403G>C , LRG_670t1:c.1403G>C	NP_000183.2:p.Arg468Thr
NM_080717.2:c.1253G>C	NP_542448.1:p.Arg418Thr
NM_181486.2:c.1403G>C	NP_852259.1:p.Arg468Thr
XM_017019912.1:c.1451G>C	XP_016875401.1:p.Arg484Thr
NM_080717.3:c.1253G>C	NP_542448.1:p.Arg418Thr
NM_181486.4:c.1403G>C MANE Select	NP_852259.1:p.Arg468Thr
NM_080717.4:c.1253G>C	NP_542448.1:p.Arg418Thr