Canonical Allele Identifier: CA2621125320

Gene: TBX5

Linked Data

• gnomAD v4: 12-114399482-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114399482T>C , CM000674.2:g.114399482T>C	GRCh38
NC_000012.11:g.114837287T>C , CM000674.1:g.114837287T>C	GRCh37
NC_000012.10:g.113321670T>C	NCBI36
NG_007373.1:g.13961A>G , LRG_670:g.13961A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.362+31A>G MANE Select	ENSP00000384152.3:n.362+31A>G
ENST00000310346.8:c.362+31A>G	ENSP00000309913.4:n.362+31A>G
ENST00000349716.9:c.212+31A>G	ENSP00000337723.5:n.212+31A>G
ENST00000405440.6:c.362+31A>G	ENSP00000384152.2:n.362+31A>G
ENST00000526441.1:c.362+31A>G	ENSP00000433292.1:n.362+31A>G
ENST00000552726.1:n.413+31A>G
NM_000192.3:c.362+31A>G , LRG_670t1:c.362+31A>G	NP_000183.2:n.362+31A>G
NM_080717.2:c.212+31A>G	NP_542448.1:n.212+31A>G
NM_181486.2:c.362+31A>G	NP_852259.1:n.362+31A>G
XM_017019912.1:c.410+31A>G	XP_016875401.1:n.410+31A>G
NM_080717.3:c.212+31A>G	NP_542448.1:n.212+31A>G
NM_181486.4:c.362+31A>G MANE Select	NP_852259.1:n.362+31A>G
NM_080717.4:c.212+31A>G	NP_542448.1:n.212+31A>G