Canonical Allele Identifier: CA1230437
Gene: TBX19 HGNC NCBI

Linked Data

ClinVar Variation Id: 293456
ClinVar RCV Id: RCV000291762 RCV000430457 RCV000994162 RCV003910063
dbSNP Id: rs200043223
ExAC: 1:168260395 T / C
gnomAD v2: 1-168260395-T-C
gnomAD v3: 1-168291157-T-C
gnomAD v4: 1-168291157-T-C
MyVariant Identifiers: chr1:g.168260395T>C (hg19) chr1:g.168291157T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291157T>C , CM000663.2:g.168291157T>C GRCh38
NC_000001.10:g.168260395T>C , CM000663.1:g.168260395T>C GRCh37
NC_000001.9:g.166527019T>C NCBI36
NG_008244.1:g.15118T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.204-3T>C MANE Select ENSP00000356795.3:n.204-3T>C
ENST00000367821.7:c.204-3T>C ENSP00000356795.3:n.204-3T>C
NM_005149.2:c.204-3T>C NP_005140.1:n.204-3T>C
NM_005149.3:c.204-3T>C MANE Select NP_005140.1:n.204-3T>C
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