Canonical Allele Identifier: CA244268932

Gene: TBX5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114364333A>G , CM000674.2:g.114364333A>G	GRCh38
NC_000012.11:g.114802138A>G , CM000674.1:g.114802138A>G	GRCh37
NC_000012.10:g.113286521A>G	NCBI36
NG_007373.1:g.49110T>C , LRG_670:g.49110T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.982+1832T>C MANE Select	ENSP00000384152.3:n.982+1832T>C
ENST00000310346.8:c.982+1832T>C	ENSP00000309913.4:n.982+1832T>C
ENST00000349716.9:c.832+1832T>C	ENSP00000337723.5:n.832+1832T>C
ENST00000405440.6:c.982+1832T>C	ENSP00000384152.2:n.982+1832T>C
NM_000192.3:c.982+1832T>C , LRG_670t1:c.982+1832T>C	NP_000183.2:n.982+1832T>C
NM_080717.2:c.832+1832T>C	NP_542448.1:n.832+1832T>C
NM_181486.2:c.982+1832T>C	NP_852259.1:n.982+1832T>C
XM_017019912.1:c.1030+1832T>C	XP_016875401.1:n.1030+1832T>C
NM_080717.3:c.832+1832T>C	NP_542448.1:n.832+1832T>C
NM_181486.4:c.982+1832T>C MANE Select	NP_852259.1:n.982+1832T>C
NM_080717.4:c.832+1832T>C	NP_542448.1:n.832+1832T>C