Canonical Allele Identifier: CA6809366

Gene: TBX5

Linked Data

• ClinVar Variation Id: 255491
• ClinVar RCV Id: RCV000250546 ; RCV000349378 ; RCV000590823 ; RCV000621807 ; RCV001084555
• dbSNP Id: rs6489957
• ExAC: 12:114793613 G / A
• gnomAD v2: 12-114793613-G-A
• gnomAD v3: 12-114355808-G-A
• gnomAD v4: 12-114355808-G-A
• MyVariant Identifiers: chr12:g.114793613G>A (hg19) ; chr12:g.114355808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355808G>A , CM000674.2:g.114355808G>A	GRCh38
NC_000012.11:g.114793613G>A , CM000674.1:g.114793613G>A	GRCh37
NC_000012.10:g.113277996G>A	NCBI36
NG_007373.1:g.57635C>T , LRG_670:g.57635C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.1281C>T MANE Select	ENSP00000384152.3:p.Ser427=
ENST00000310346.8:c.1281C>T	ENSP00000309913.4:p.Ser427=
ENST00000349716.9:c.1131C>T	ENSP00000337723.5:p.Ser377=
ENST00000405440.6:c.1281C>T	ENSP00000384152.2:p.Ser427=
NM_000192.3:c.1281C>T , LRG_670t1:c.1281C>T	NP_000183.2:p.Ser427=
NM_080717.2:c.1131C>T	NP_542448.1:p.Ser377=
NM_181486.2:c.1281C>T	NP_852259.1:p.Ser427=
XM_017019912.1:c.1329C>T	XP_016875401.1:p.Ser443=
NM_080717.3:c.1131C>T	NP_542448.1:p.Ser377=
NM_181486.4:c.1281C>T MANE Select	NP_852259.1:p.Ser427=
NM_080717.4:c.1131C>T	NP_542448.1:p.Ser377=