Canonical Allele Identifier: CA1230546

Gene: TBX19

Linked Data

• dbSNP Id: rs765419221
• ExAC: 1:168262527 G / GTT
• gnomAD v2: 1-168262527-G-GTT
• gnomAD v3: 1-168293289-G-GTT
• gnomAD v4: 1-168293289-G-GTT
• MyVariant Identifiers: chr1:g.168262527_168262528insTT (hg19) ; chr1:g.168293289_168293290insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293290_168293291insTT , CM000663.2:g.168293290_168293291insTT	GRCh38
NC_000001.10:g.168262528_168262529insTT , CM000663.1:g.168262528_168262529insTT	GRCh37
NC_000001.9:g.166529152_166529153insTT	NCBI36
NG_008244.1:g.17251_17252insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+12_603+13insTT MANE Select	ENSP00000356795.3:n.603+12_603+13insTT
ENST00000367821.7:c.603+12_603+13insTT	ENSP00000356795.3:n.603+12_603+13insTT
ENST00000431969.5:c.400+12_400+13insTT
NM_005149.2:c.603+12_603+13insTT	NP_005140.1:n.603+12_603+13insTT
NM_005149.3:c.603+12_603+13insTT MANE Select	NP_005140.1:n.603+12_603+13insTT