Canonical Allele Identifier: CA386925420

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355820G>C , CM000674.2:g.114355820G>C	GRCh38
NC_000012.11:g.114793625G>C , CM000674.1:g.114793625G>C	GRCh37
NC_000012.10:g.113278008G>C	NCBI36
NG_007373.1:g.57623C>G , LRG_670:g.57623C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.1269C>G MANE Select	NP_852259.1:p.Tyr423Ter
ENST00000405440.7:c.1269C>G MANE Select	ENSP00000384152.3:p.Tyr423Ter
NM_000192.3:c.1269C>G , LRG_670t1:c.1269C>G	NP_000183.2:p.Tyr423Ter
NM_080717.2:c.1119C>G	NP_542448.1:p.Tyr373Ter
NM_080717.3:c.1119C>G	NP_542448.1:p.Tyr373Ter
NM_080717.4:c.1119C>G	NP_542448.1:p.Tyr373Ter
NM_181486.2:c.1269C>G	NP_852259.1:p.Tyr423Ter
ENST00000310346.8:c.1269C>G	ENSP00000309913.4:p.Tyr423Ter
ENST00000349716.9:c.1119C>G	ENSP00000337723.5:p.Tyr373Ter
ENST00000405440.6:c.1269C>G	ENSP00000384152.2:p.Tyr423Ter
XM_017019912.1:c.1317C>G	XP_016875401.1:p.Tyr439Ter