Canonical Allele Identifier: CA386861968

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114836392C>A (hg19) ; chr12:g.114398587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398587C>A , CM000674.2:g.114398587C>A	GRCh38
NC_000012.11:g.114836392C>A , CM000674.1:g.114836392C>A	GRCh37
NC_000012.10:g.113320775C>A	NCBI36
NG_007373.1:g.14856G>T , LRG_670:g.14856G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.496G>T MANE Select	ENSP00000384152.3:p.Asp166Tyr
ENST00000310346.8:c.496G>T	ENSP00000309913.4:p.Asp166Tyr
ENST00000349716.9:c.346G>T	ENSP00000337723.5:p.Asp116Tyr
ENST00000405440.6:c.496G>T	ENSP00000384152.2:p.Asp166Tyr
ENST00000526441.1:c.496G>T	ENSP00000433292.1:p.Asp166Tyr
ENST00000552726.1:n.547G>T
NM_000192.3:c.496G>T , LRG_670t1:c.496G>T	NP_000183.2:p.Asp166Tyr
NM_080717.2:c.346G>T	NP_542448.1:p.Asp116Tyr
NM_181486.2:c.496G>T	NP_852259.1:p.Asp166Tyr
XM_017019912.1:c.544G>T	XP_016875401.1:p.Asp182Tyr
NM_080717.3:c.346G>T	NP_542448.1:p.Asp116Tyr
NM_181486.4:c.496G>T MANE Select	NP_852259.1:p.Asp166Tyr
NM_080717.4:c.346G>T	NP_542448.1:p.Asp116Tyr