Canonical Allele Identifier: CA343107110

Gene: TBX19

Linked Data

• MyVariant Identifiers: chr1:g.168262507G>T (hg19) ; chr1:g.168293269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293269G>T , CM000663.2:g.168293269G>T	GRCh38
NC_000001.10:g.168262507G>T , CM000663.1:g.168262507G>T	GRCh37
NC_000001.9:g.166529131G>T	NCBI36
NG_008244.1:g.17230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.594G>T MANE Select	ENSP00000356795.3:p.Gln198His
ENST00000367821.7:c.594G>T	ENSP00000356795.3:p.Gln198His
ENST00000431969.5:c.391G>T
NM_005149.2:c.594G>T	NP_005140.1:p.Gln198His
NM_005149.3:c.594G>T MANE Select	NP_005140.1:p.Gln198His