Canonical Allele Identifier: CA6809676

Gene: TBX5

Linked Data

• dbSNP Id: rs773681038
• ExAC: 12:114839625 T / G
• gnomAD v2: 12-114839625-T-G
• gnomAD v4: 12-114401820-T-G
• MyVariant Identifiers: chr12:g.114839625T>G (hg19) ; chr12:g.114401820T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401820T>G , CM000674.2:g.114401820T>G	GRCh38
NC_000012.11:g.114839625T>G , CM000674.1:g.114839625T>G	GRCh37
NC_000012.10:g.113324008T>G	NCBI36
NG_007373.1:g.11623A>C , LRG_670:g.11623A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.242+6A>C MANE Select	ENSP00000384152.3:n.242+6A>C
ENST00000310346.8:c.242+6A>C	ENSP00000309913.4:n.242+6A>C
ENST00000349716.9:c.92+6A>C	ENSP00000337723.5:n.92+6A>C
ENST00000405440.6:c.242+6A>C	ENSP00000384152.2:n.242+6A>C
ENST00000526441.1:c.242+6A>C	ENSP00000433292.1:n.242+6A>C
ENST00000552726.1:n.293+6A>C
NM_000192.3:c.242+6A>C , LRG_670t1:c.242+6A>C	NP_000183.2:n.242+6A>C
NM_080717.2:c.92+6A>C	NP_542448.1:n.92+6A>C
NM_181486.2:c.242+6A>C	NP_852259.1:n.242+6A>C
XM_017019912.1:c.290+6A>C	XP_016875401.1:n.290+6A>C
NM_080717.3:c.92+6A>C	NP_542448.1:n.92+6A>C
NM_181486.4:c.242+6A>C MANE Select	NP_852259.1:n.242+6A>C
NM_080717.4:c.92+6A>C	NP_542448.1:n.92+6A>C