Canonical Allele Identifier: CA2621126363

Gene: TBX5

Linked Data

• gnomAD v4: 12-114403744-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403744C>A , CM000674.2:g.114403744C>A	GRCh38
NC_000012.11:g.114841549C>A , CM000674.1:g.114841549C>A	GRCh37
NC_000012.10:g.113325932C>A	NCBI36
NG_007373.1:g.9699G>T , LRG_670:g.9699G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.147+8G>T MANE Select	ENSP00000384152.3:n.147+8G>T
ENST00000310346.8:c.147+8G>T	ENSP00000309913.4:n.147+8G>T
ENST00000349716.9:c.-3-1824G>T	ENSP00000337723.5:n.-3-1824G>T
ENST00000405440.6:c.147+8G>T	ENSP00000384152.2:n.147+8G>T
ENST00000526441.1:c.147+8G>T	ENSP00000433292.1:n.147+8G>T
ENST00000552726.1:n.198+8G>T
NM_000192.3:c.147+8G>T , LRG_670t1:c.147+8G>T	NP_000183.2:n.147+8G>T
NM_080717.2:c.-3-1824G>T	NP_542448.1:n.-3-1824G>T
NM_181486.2:c.147+8G>T	NP_852259.1:n.147+8G>T
XM_017019912.1:c.195+8G>T	XP_016875401.1:n.195+8G>T
NM_080717.3:c.-3-1824G>T	NP_542448.1:n.-3-1824G>T
NM_181486.4:c.147+8G>T MANE Select	NP_852259.1:n.147+8G>T
NM_080717.4:c.-3-1824G>T	NP_542448.1:n.-3-1824G>T