Canonical Allele Identifier: CA386926323

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114366214G>C , CM000674.2:g.114366214G>C	GRCh38
NC_000012.11:g.114804019G>C , CM000674.1:g.114804019G>C	GRCh37
NC_000012.10:g.113288402G>C	NCBI36
NG_007373.1:g.47229C>G , LRG_670:g.47229C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.933C>G MANE Select	NP_852259.1:p.Tyr311Ter
ENST00000405440.7:c.933C>G MANE Select	ENSP00000384152.3:p.Tyr311Ter
NM_000192.3:c.933C>G , LRG_670t1:c.933C>G	NP_000183.2:p.Tyr311Ter
NM_080717.2:c.783C>G	NP_542448.1:p.Tyr261Ter
NM_080717.3:c.783C>G	NP_542448.1:p.Tyr261Ter
NM_080717.4:c.783C>G	NP_542448.1:p.Tyr261Ter
NM_181486.2:c.933C>G	NP_852259.1:p.Tyr311Ter
ENST00000310346.8:c.933C>G	ENSP00000309913.4:p.Tyr311Ter
ENST00000349716.9:c.783C>G	ENSP00000337723.5:p.Tyr261Ter
ENST00000405440.6:c.933C>G	ENSP00000384152.2:p.Tyr311Ter
ENST00000526441.1:c.933C>G	ENSP00000433292.1:p.Tyr311Ter
XM_017019912.1:c.981C>G	XP_016875401.1:p.Tyr327Ter