Canonical Allele Identifier: CA386926523

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114366312G>C , CM000674.2:g.114366312G>C	GRCh38
NC_000012.11:g.114804117G>C , CM000674.1:g.114804117G>C	GRCh37
NC_000012.10:g.113288500G>C	NCBI36
NG_007373.1:g.47131C>G , LRG_670:g.47131C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.835C>G MANE Select	ENSP00000384152.3:p.Arg279Gly
ENST00000310346.8:c.835C>G	ENSP00000309913.4:p.Arg279Gly
ENST00000349716.9:c.685C>G	ENSP00000337723.5:p.Arg229Gly
ENST00000405440.6:c.835C>G	ENSP00000384152.2:p.Arg279Gly
ENST00000526441.1:c.835C>G	ENSP00000433292.1:p.Arg279Gly
NM_000192.3:c.835C>G , LRG_670t1:c.835C>G	NP_000183.2:p.Arg279Gly
NM_080717.2:c.685C>G	NP_542448.1:p.Arg229Gly
NM_181486.2:c.835C>G	NP_852259.1:p.Arg279Gly
XM_017019912.1:c.883C>G	XP_016875401.1:p.Arg295Gly
NM_080717.3:c.685C>G	NP_542448.1:p.Arg229Gly
NM_181486.4:c.835C>G MANE Select	NP_852259.1:p.Arg279Gly
NM_080717.4:c.685C>G	NP_542448.1:p.Arg229Gly