Canonical Allele Identifier: CA10588541

Gene: TBX5

Linked Data

• ClinVar Variation Id: 265264
• ClinVar RCV Id: RCV000255260 ; RCV000782337
• dbSNP Id: rs863223776
• MyVariant Identifiers: chr12:g.114823281C>G (hg19) ; chr12:g.114385476C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114385476C>G , CM000674.2:g.114385476C>G	GRCh38
NC_000012.11:g.114823281C>G , CM000674.1:g.114823281C>G	GRCh37
NC_000012.10:g.113307664C>G	NCBI36
NG_007373.1:g.27967G>C , LRG_670:g.27967G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.755G>C MANE Select	ENSP00000384152.3:p.Ser252Thr
ENST00000310346.8:c.755G>C	ENSP00000309913.4:p.Ser252Thr
ENST00000349716.9:c.605G>C	ENSP00000337723.5:p.Ser202Thr
ENST00000405440.6:c.755G>C	ENSP00000384152.2:p.Ser252Thr
ENST00000526441.1:c.755G>C	ENSP00000433292.1:p.Ser252Thr
NM_000192.3:c.755G>C , LRG_670t1:c.755G>C	NP_000183.2:p.Ser252Thr
NM_080717.2:c.605G>C	NP_542448.1:p.Ser202Thr
NM_181486.2:c.755G>C	NP_852259.1:p.Ser252Thr
XM_017019912.1:c.803G>C	XP_016875401.1:p.Ser268Thr
NM_080717.3:c.605G>C	NP_542448.1:p.Ser202Thr
NM_181486.4:c.755G>C MANE Select	NP_852259.1:p.Ser252Thr
NM_080717.4:c.605G>C	NP_542448.1:p.Ser202Thr