Canonical Allele Identifier: CA1230531

Gene: TBX19

Linked Data

• dbSNP Id: rs747507388
• ExAC: 1:168262519 A / AAG
• gnomAD v2: 1-168262519-A-AAG
• gnomAD v3: 1-168293281-A-AAG
• gnomAD v4: 1-168293281-A-AAG
• MyVariant Identifiers: chr1:g.168262519_168262520insAG (hg19) ; chr1:g.168293281_168293282insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293284_168293285dup , CM000663.2:g.168293284_168293285dup	GRCh38
NC_000001.10:g.168262522_168262523dup , CM000663.1:g.168262522_168262523dup	GRCh37
NC_000001.9:g.166529146_166529147dup	NCBI36
NG_008244.1:g.17245_17246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+6_603+7dup MANE Select	ENSP00000356795.3:n.603+6_603+7dup
ENST00000367821.7:c.603+6_603+7dup	ENSP00000356795.3:n.603+6_603+7dup
ENST00000431969.5:c.400+6_400+7dup
NM_005149.2:c.603+6_603+7dup	NP_005140.1:n.603+6_603+7dup
NM_005149.3:c.603+6_603+7dup MANE Select	NP_005140.1:n.603+6_603+7dup