Canonical Allele Identifier: CA6809345

Gene: TBX5

Linked Data

• dbSNP Id: rs757457183
• ExAC: 12:114793494 A / G
• gnomAD v2: 12-114793494-A-G
• gnomAD v4: 12-114355689-A-G
• MyVariant Identifiers: chr12:g.114793494A>G (hg19) ; chr12:g.114355689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355689A>G , CM000674.2:g.114355689A>G	GRCh38
NC_000012.11:g.114793494A>G , CM000674.1:g.114793494A>G	GRCh37
NC_000012.10:g.113277877A>G	NCBI36
NG_007373.1:g.57754T>C , LRG_670:g.57754T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.1400T>C MANE Select	ENSP00000384152.3:p.Val467Ala
ENST00000310346.8:c.1400T>C	ENSP00000309913.4:p.Val467Ala
ENST00000349716.9:c.1250T>C	ENSP00000337723.5:p.Val417Ala
ENST00000405440.6:c.1400T>C	ENSP00000384152.2:p.Val467Ala
NM_000192.3:c.1400T>C , LRG_670t1:c.1400T>C	NP_000183.2:p.Val467Ala
NM_080717.2:c.1250T>C	NP_542448.1:p.Val417Ala
NM_181486.2:c.1400T>C	NP_852259.1:p.Val467Ala
XM_017019912.1:c.1448T>C	XP_016875401.1:p.Val483Ala
NM_080717.3:c.1250T>C	NP_542448.1:p.Val417Ala
NM_181486.4:c.1400T>C MANE Select	NP_852259.1:p.Val467Ala
NM_080717.4:c.1250T>C	NP_542448.1:p.Val417Ala