Canonical Allele Identifier: CA1230822

Gene: TBX19

Linked Data

• ClinVar Variation Id: 293482
• ClinVar RCV Id: RCV000297166
• dbSNP Id: rs143627386
• ExAC: 1:168282266 C / G
• gnomAD v2: 1-168282266-C-G
• gnomAD v3: 1-168313028-C-G
• gnomAD v4: 1-168313028-C-G
• MyVariant Identifiers: chr1:g.168282266C>G (hg19) ; chr1:g.168313028C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168313028C>G , CM000663.2:g.168313028C>G	GRCh38
NC_000001.10:g.168282266C>G , CM000663.1:g.168282266C>G	GRCh37
NC_000001.9:g.166548890C>G	NCBI36
NG_008244.1:g.36989C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.*26C>G MANE Select	ENSP00000356795.3:n.*26C>G
ENST00000367821.7:c.*26C>G	ENSP00000356795.3:n.*26C>G
ENST00000431969.5:c.981C>G
ENST00000441464.1:c.870C>G
ENST00000465440.1:n.1182C>G
NM_005149.2:c.*26C>G	NP_005140.1:n.*26C>G
NM_005149.3:c.*26C>G MANE Select	NP_005140.1:n.*26C>G