Canonical Allele Identifier: CA1230562

Gene: TBX19

Linked Data

• dbSNP Id: rs778485675
• ExAC: 1:168262562 T / TGC
• MyVariant Identifiers: chr1:g.168262562_168262563insGC (hg19) ; chr1:g.168293324_168293325insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293325_168293326insCG , CM000663.2:g.168293325_168293326insCG	GRCh38
NC_000001.10:g.168262563_168262564insCG , CM000663.1:g.168262563_168262564insCG	GRCh37
NC_000001.9:g.166529187_166529188insCG	NCBI36
NG_008244.1:g.17286_17287insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+47_603+48insCG MANE Select	ENSP00000356795.3:n.603+47_603+48insCG
ENST00000367821.7:c.603+47_603+48insCG	ENSP00000356795.3:n.603+47_603+48insCG
ENST00000431969.5:c.400+47_400+48insCG
NM_005149.2:c.603+47_603+48insCG	NP_005140.1:n.603+47_603+48insCG
NM_005149.3:c.603+47_603+48insCG MANE Select	NP_005140.1:n.603+47_603+48insCG