Canonical Allele Identifier: CA2621124328
Gene: TBX5 HGNC NCBI

Linked Data

gnomAD v4: 12-114355266-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114355266G>T , CM000674.2:g.114355266G>T GRCh38
NC_000012.11:g.114793071G>T , CM000674.1:g.114793071G>T GRCh37
NC_000012.10:g.113277454G>T NCBI36
NG_007373.1:g.58177C>A , LRG_670:g.58177C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.*266C>A MANE Select ENSP00000384152.3:n.*266C>A
ENST00000310346.8:c.*266C>A ENSP00000309913.4:n.*266C>A
ENST00000349716.9:c.*266C>A ENSP00000337723.5:n.*266C>A
NM_000192.3:c.*266C>A , LRG_670t1:c.*266C>A NP_000183.2:n.*266C>A
NM_080717.2:c.*266C>A NP_542448.1:n.*266C>A
NM_181486.2:c.*266C>A NP_852259.1:n.*266C>A
XM_017019912.1:c.*266C>A XP_016875401.1:n.*266C>A
NM_080717.3:c.*266C>A NP_542448.1:n.*266C>A
NM_181486.4:c.*266C>A MANE Select NP_852259.1:n.*266C>A
NM_080717.4:c.*266C>A NP_542448.1:n.*266C>A
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