Canonical Allele Identifier: CA2621124158
Gene: TBX5 HGNC NCBI

Linked Data

gnomAD v4: 12-114354982-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114354982T>G , CM000674.2:g.114354982T>G GRCh38
NC_000012.11:g.114792787T>G , CM000674.1:g.114792787T>G GRCh37
NC_000012.10:g.113277170T>G NCBI36
NG_007373.1:g.58461A>C , LRG_670:g.58461A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.*550A>C MANE Select ENSP00000384152.3:n.*550A>C
ENST00000310346.8:c.*550A>C ENSP00000309913.4:n.*550A>C
ENST00000349716.9:c.*550A>C ENSP00000337723.5:n.*550A>C
NM_000192.3:c.*550A>C , LRG_670t1:c.*550A>C NP_000183.2:n.*550A>C
NM_080717.2:c.*550A>C NP_542448.1:n.*550A>C
NM_181486.2:c.*550A>C NP_852259.1:n.*550A>C
XM_017019912.1:c.*550A>C XP_016875401.1:n.*550A>C
NM_080717.3:c.*550A>C NP_542448.1:n.*550A>C
NM_181486.4:c.*550A>C MANE Select NP_852259.1:n.*550A>C
NM_080717.4:c.*550A>C NP_542448.1:n.*550A>C
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