Canonical Allele Identifier: CA386859702

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114385528C>A , CM000674.2:g.114385528C>A	GRCh38
NC_000012.11:g.114823333C>A , CM000674.1:g.114823333C>A	GRCh37
NC_000012.10:g.113307716C>A	NCBI36
NG_007373.1:g.27915G>T , LRG_670:g.27915G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.703G>T MANE Select	NP_852259.1:p.Gly235Ter
ENST00000405440.7:c.703G>T MANE Select	ENSP00000384152.3:p.Gly235Ter
NM_000192.3:c.703G>T , LRG_670t1:c.703G>T	NP_000183.2:p.Gly235Ter
NM_080717.2:c.553G>T	NP_542448.1:p.Gly185Ter
NM_080717.3:c.553G>T	NP_542448.1:p.Gly185Ter
NM_080717.4:c.553G>T	NP_542448.1:p.Gly185Ter
NM_181486.2:c.703G>T	NP_852259.1:p.Gly235Ter
ENST00000310346.8:c.703G>T	ENSP00000309913.4:p.Gly235Ter
ENST00000349716.9:c.553G>T	ENSP00000337723.5:p.Gly185Ter
ENST00000405440.6:c.703G>T	ENSP00000384152.2:p.Gly235Ter
ENST00000526441.1:c.703G>T	ENSP00000433292.1:p.Gly235Ter
XM_017019912.1:c.751G>T	XP_016875401.1:p.Gly251Ter