Canonical Allele Identifier: CA527130774

Gene: TBX19

Linked Data

• dbSNP Id: rs1346782250
• gnomAD v2: 1-168262557-G-GTA
• gnomAD v3: 1-168293319-G-GTA
• gnomAD v4: 1-168293319-G-GTA
• MyVariant Identifiers: chr1:g.168262557_168262558insTA (hg19) ; chr1:g.168293319_168293320insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293320_168293321insAT , CM000663.2:g.168293320_168293321insAT	GRCh38
NC_000001.10:g.168262558_168262559insAT , CM000663.1:g.168262558_168262559insAT	GRCh37
NC_000001.9:g.166529182_166529183insAT	NCBI36
NG_008244.1:g.17281_17282insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+42_603+43insAT MANE Select	ENSP00000356795.3:n.603+42_603+43insAT
ENST00000367821.7:c.603+42_603+43insAT	ENSP00000356795.3:n.603+42_603+43insAT
ENST00000431969.5:c.400+42_400+43insAT
NM_005149.2:c.603+42_603+43insAT	NP_005140.1:n.603+42_603+43insAT
NM_005149.3:c.603+42_603+43insAT MANE Select	NP_005140.1:n.603+42_603+43insAT