Canonical Allele Identifier: CA1008886673

Gene: TBX19

Linked Data

• dbSNP Id: rs57039241
• gnomAD v3: 1-168293284-A-AGTGTGTGTGTGTGTGTGT
• gnomAD v4: 1-168293284-A-AGTGTGTGTGTGTGTGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293309_168293326dup , CM000663.2:g.168293309_168293326dup	GRCh38
NC_000001.10:g.168262547_168262564dup , CM000663.1:g.168262547_168262564dup	GRCh37
NC_000001.9:g.166529171_166529188dup	NCBI36
NG_008244.1:g.17270_17287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+31_603+48dup MANE Select	ENSP00000356795.3:n.603+31_603+48dup
ENST00000367821.7:c.603+31_603+48dup	ENSP00000356795.3:n.603+31_603+48dup
ENST00000431969.5:c.400+31_400+48dup
NM_005149.2:c.603+31_603+48dup	NP_005140.1:n.603+31_603+48dup
NM_005149.3:c.603+31_603+48dup MANE Select	NP_005140.1:n.603+31_603+48dup