Canonical Allele Identifier: CA343106851

Gene: TBX19

Linked Data

• MyVariant Identifiers: chr1:g.168262389T>G (hg19) ; chr1:g.168293151T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293151T>G , CM000663.2:g.168293151T>G	GRCh38
NC_000001.10:g.168262389T>G , CM000663.1:g.168262389T>G	GRCh37
NC_000001.9:g.166529013T>G	NCBI36
NG_008244.1:g.17112T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.476T>G MANE Select	ENSP00000356795.3:p.Leu159Trp
ENST00000367821.7:c.476T>G	ENSP00000356795.3:p.Leu159Trp
ENST00000431969.5:c.273T>G
NM_005149.2:c.476T>G	NP_005140.1:p.Leu159Trp
NM_005149.3:c.476T>G MANE Select	NP_005140.1:p.Leu159Trp