Canonical Allele Identifier: CA325146
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 213820
ClinVar RCV Id: RCV000200559 RCV001390030
dbSNP Id: rs863223777
MyVariant Identifiers: chr12:g.114841562G>A (hg19) chr12:g.114403757G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114403757G>A , CM000674.2:g.114403757G>A GRCh38
NC_000012.11:g.114841562G>A , CM000674.1:g.114841562G>A GRCh37
NC_000012.10:g.113325945G>A NCBI36
NG_007373.1:g.9686C>T , LRG_670:g.9686C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.142C>T MANE Select ENSP00000384152.3:p.Gln48Ter
ENST00000310346.8:c.142C>T ENSP00000309913.4:p.Gln48Ter
ENST00000349716.9:c.-3-1837C>T ENSP00000337723.5:n.-3-1837C>T
ENST00000405440.6:c.142C>T ENSP00000384152.2:p.Gln48Ter
ENST00000526441.1:c.142C>T ENSP00000433292.1:p.Gln48Ter
ENST00000552726.1:n.193C>T
NM_000192.3:c.142C>T , LRG_670t1:c.142C>T NP_000183.2:p.Gln48Ter
NM_080717.2:c.-3-1837C>T NP_542448.1:n.-3-1837C>T
NM_181486.2:c.142C>T NP_852259.1:p.Gln48Ter
XM_017019912.1:c.190C>T XP_016875401.1:p.Gln64Ter
NM_080717.3:c.-3-1837C>T NP_542448.1:n.-3-1837C>T
NM_181486.4:c.142C>T MANE Select NP_852259.1:p.Gln48Ter
NM_080717.4:c.-3-1837C>T NP_542448.1:n.-3-1837C>T
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