Canonical Allele Identifier: CA2064648993

Gene: TBX5

Linked Data

• dbSNP Id: rs1247802732

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398407C>G , CM000674.2:g.114398407C>G	GRCh38
NC_000012.11:g.114836212C>G , CM000674.1:g.114836212C>G	GRCh37
NC_000012.10:g.113320595C>G	NCBI36
NG_007373.1:g.15036G>C , LRG_670:g.15036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+166G>C MANE Select	ENSP00000384152.3:n.510+166G>C
ENST00000310346.8:c.510+166G>C	ENSP00000309913.4:n.510+166G>C
ENST00000349716.9:c.360+166G>C	ENSP00000337723.5:n.360+166G>C
ENST00000405440.6:c.510+166G>C	ENSP00000384152.2:n.510+166G>C
ENST00000526441.1:c.510+166G>C	ENSP00000433292.1:n.510+166G>C
ENST00000552726.1:n.561+166G>C
NM_000192.3:c.510+166G>C , LRG_670t1:c.510+166G>C	NP_000183.2:n.510+166G>C
NM_080717.2:c.360+166G>C	NP_542448.1:n.360+166G>C
NM_181486.2:c.510+166G>C	NP_852259.1:n.510+166G>C
XM_017019912.1:c.558+166G>C	XP_016875401.1:n.558+166G>C
NM_080717.3:c.360+166G>C	NP_542448.1:n.360+166G>C
NM_181486.4:c.510+166G>C MANE Select	NP_852259.1:n.510+166G>C
NM_080717.4:c.360+166G>C	NP_542448.1:n.360+166G>C