Canonical Allele Identifier: CA386863452

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114841575C>G (hg19) ; chr12:g.114403770C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403770C>G , CM000674.2:g.114403770C>G	GRCh38
NC_000012.11:g.114841575C>G , CM000674.1:g.114841575C>G	GRCh37
NC_000012.10:g.113325958C>G	NCBI36
NG_007373.1:g.9673G>C , LRG_670:g.9673G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.129G>C MANE Select	ENSP00000384152.3:p.Gln43His
ENST00000310346.8:c.129G>C	ENSP00000309913.4:p.Gln43His
ENST00000349716.9:c.-3-1850G>C	ENSP00000337723.5:n.-3-1850G>C
ENST00000405440.6:c.129G>C	ENSP00000384152.2:p.Gln43His
ENST00000526441.1:c.129G>C	ENSP00000433292.1:p.Gln43His
ENST00000552726.1:n.180G>C
NM_000192.3:c.129G>C , LRG_670t1:c.129G>C	NP_000183.2:p.Gln43His
NM_080717.2:c.-3-1850G>C	NP_542448.1:n.-3-1850G>C
NM_181486.2:c.129G>C	NP_852259.1:p.Gln43His
XM_017019912.1:c.177G>C	XP_016875401.1:p.Gln59His
NM_080717.3:c.-3-1850G>C	NP_542448.1:n.-3-1850G>C
NM_181486.4:c.129G>C MANE Select	NP_852259.1:p.Gln43His
NM_080717.4:c.-3-1850G>C	NP_542448.1:n.-3-1850G>C