Canonical Allele Identifier: CA527130766

Gene: TBX19

Linked Data

• dbSNP Id: rs1367271190
• gnomAD v2: 1-168262535-G-GTA
• gnomAD v3: 1-168293297-G-GTA
• gnomAD v4: 1-168293297-G-GTA
• MyVariant Identifiers: chr1:g.168262535_168262536insTA (hg19) ; chr1:g.168293297_168293298insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293298_168293299insAT , CM000663.2:g.168293298_168293299insAT	GRCh38
NC_000001.10:g.168262536_168262537insAT , CM000663.1:g.168262536_168262537insAT	GRCh37
NC_000001.9:g.166529160_166529161insAT	NCBI36
NG_008244.1:g.17259_17260insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+20_603+21insAT MANE Select	ENSP00000356795.3:n.603+20_603+21insAT
ENST00000367821.7:c.603+20_603+21insAT	ENSP00000356795.3:n.603+20_603+21insAT
ENST00000431969.5:c.400+20_400+21insAT
NM_005149.2:c.603+20_603+21insAT	NP_005140.1:n.603+20_603+21insAT
NM_005149.3:c.603+20_603+21insAT MANE Select	NP_005140.1:n.603+20_603+21insAT