Canonical Allele Identifier: CA2064633173
Gene: TBX5 HGNC NCBI

Linked Data

dbSNP Id: rs1186807741
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114355020A>C , CM000674.2:g.114355020A>C GRCh38
NC_000012.11:g.114792825A>C , CM000674.1:g.114792825A>C GRCh37
NC_000012.10:g.113277208A>C NCBI36
NG_007373.1:g.58423T>G , LRG_670:g.58423T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.*512T>G MANE Select ENSP00000384152.3:n.*512T>G
ENST00000310346.8:c.*512T>G ENSP00000309913.4:n.*512T>G
ENST00000349716.9:c.*512T>G ENSP00000337723.5:n.*512T>G
NM_000192.3:c.*512T>G , LRG_670t1:c.*512T>G NP_000183.2:n.*512T>G
NM_080717.2:c.*512T>G NP_542448.1:n.*512T>G
NM_181486.2:c.*512T>G NP_852259.1:n.*512T>G
XM_017019912.1:c.*512T>G XP_016875401.1:n.*512T>G
NM_080717.3:c.*512T>G NP_542448.1:n.*512T>G
NM_181486.4:c.*512T>G MANE Select NP_852259.1:n.*512T>G
NM_080717.4:c.*512T>G NP_542448.1:n.*512T>G
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