Canonical Allele Identifier: CA386863067

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114839661C>T (hg19) ; chr12:g.114401856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401856C>T , CM000674.2:g.114401856C>T	GRCh38
NC_000012.11:g.114839661C>T , CM000674.1:g.114839661C>T	GRCh37
NC_000012.10:g.113324044C>T	NCBI36
NG_007373.1:g.11587G>A , LRG_670:g.11587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.212G>A MANE Select	ENSP00000384152.3:p.Gly71Asp
ENST00000310346.8:c.212G>A	ENSP00000309913.4:p.Gly71Asp
ENST00000349716.9:c.62G>A	ENSP00000337723.5:p.Gly21Asp
ENST00000405440.6:c.212G>A	ENSP00000384152.2:p.Gly71Asp
ENST00000526441.1:c.212G>A	ENSP00000433292.1:p.Gly71Asp
ENST00000552726.1:n.263G>A
NM_000192.3:c.212G>A , LRG_670t1:c.212G>A	NP_000183.2:p.Gly71Asp
NM_080717.2:c.62G>A	NP_542448.1:p.Gly21Asp
NM_181486.2:c.212G>A	NP_852259.1:p.Gly71Asp
XM_017019912.1:c.260G>A	XP_016875401.1:p.Gly87Asp
NM_080717.3:c.62G>A	NP_542448.1:p.Gly21Asp
NM_181486.4:c.212G>A MANE Select	NP_852259.1:p.Gly71Asp
NM_080717.4:c.62G>A	NP_542448.1:p.Gly21Asp