Canonical Allele Identifier: CA386925118

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114793483C>T (hg19) ; chr12:g.114355678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355678C>T , CM000674.2:g.114355678C>T	GRCh38
NC_000012.11:g.114793483C>T , CM000674.1:g.114793483C>T	GRCh37
NC_000012.10:g.113277866C>T	NCBI36
NG_007373.1:g.57765G>A , LRG_670:g.57765G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.1411G>A MANE Select	ENSP00000384152.3:p.Gly471Arg
ENST00000310346.8:c.1411G>A	ENSP00000309913.4:p.Gly471Arg
ENST00000349716.9:c.1261G>A	ENSP00000337723.5:p.Gly421Arg
ENST00000405440.6:c.1411G>A	ENSP00000384152.2:p.Gly471Arg
NM_000192.3:c.1411G>A , LRG_670t1:c.1411G>A	NP_000183.2:p.Gly471Arg
NM_080717.2:c.1261G>A	NP_542448.1:p.Gly421Arg
NM_181486.2:c.1411G>A	NP_852259.1:p.Gly471Arg
XM_017019912.1:c.1459G>A	XP_016875401.1:p.Gly487Arg
NM_080717.3:c.1261G>A	NP_542448.1:p.Gly421Arg
NM_181486.4:c.1411G>A MANE Select	NP_852259.1:p.Gly471Arg
NM_080717.4:c.1261G>A	NP_542448.1:p.Gly421Arg