Canonical Allele Identifier: CA343106999

Gene: TBX19

Linked Data

• MyVariant Identifiers: chr1:g.168262458C>A (hg19) ; chr1:g.168293220C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293220C>A , CM000663.2:g.168293220C>A	GRCh38
NC_000001.10:g.168262458C>A , CM000663.1:g.168262458C>A	GRCh37
NC_000001.9:g.166529082C>A	NCBI36
NG_008244.1:g.17181C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367821.8:c.545C>A MANE Select	ENSP00000356795.3:p.Thr182Lys
ENST00000367821.7:c.545C>A	ENSP00000356795.3:p.Thr182Lys
ENST00000431969.5:c.342C>A
NM_005149.2:c.545C>A	NP_005140.1:p.Thr182Lys
NM_005149.3:c.545C>A MANE Select	NP_005140.1:p.Thr182Lys