Canonical Allele Identifier: CA343107087

Gene: TBX19

Linked Data

• MyVariant Identifiers: chr1:g.168262497C>T (hg19) ; chr1:g.168293259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293259C>T , CM000663.2:g.168293259C>T	GRCh38
NC_000001.10:g.168262497C>T , CM000663.1:g.168262497C>T	GRCh37
NC_000001.9:g.166529121C>T	NCBI36
NG_008244.1:g.17220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.584C>T MANE Select	ENSP00000356795.3:p.Thr195Ile
ENST00000367821.7:c.584C>T	ENSP00000356795.3:p.Thr195Ile
ENST00000431969.5:c.381C>T
NM_005149.2:c.584C>T	NP_005140.1:p.Thr195Ile
NM_005149.3:c.584C>T MANE Select	NP_005140.1:p.Thr195Ile