Canonical Allele Identifier: CA2064636524

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114362169G>C , CM000674.2:g.114362169G>C	GRCh38
NC_000012.11:g.114799974G>C , CM000674.1:g.114799974G>C	GRCh37
NC_000012.10:g.113284357G>C	NCBI36
NG_007373.1:g.51274C>G , LRG_670:g.51274C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.982+3996C>G MANE Select	NP_852259.1:n.982+3996C>G
ENST00000405440.7:c.982+3996C>G MANE Select	ENSP00000384152.3:n.982+3996C>G
NM_000192.3:c.982+3996C>G , LRG_670t1:c.982+3996C>G	NP_000183.2:n.982+3996C>G
NM_080717.2:c.832+3996C>G	NP_542448.1:n.832+3996C>G
NM_080717.3:c.832+3996C>G	NP_542448.1:n.832+3996C>G
NM_080717.4:c.832+3996C>G	NP_542448.1:n.832+3996C>G
NM_181486.2:c.982+3996C>G	NP_852259.1:n.982+3996C>G
ENST00000310346.8:c.982+3996C>G	ENSP00000309913.4:n.982+3996C>G
ENST00000349716.9:c.832+3996C>G	ENSP00000337723.5:n.832+3996C>G
ENST00000405440.6:c.982+3996C>G	ENSP00000384152.2:n.982+3996C>G
XM_017019912.1:c.1030+3996C>G	XP_016875401.1:n.1030+3996C>G