Canonical Allele Identifier: CA343107054

Gene: TBX19

Linked Data

• MyVariant Identifiers: chr1:g.168262482A>T (hg19) ; chr1:g.168293244A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293244A>T , CM000663.2:g.168293244A>T	GRCh38
NC_000001.10:g.168262482A>T , CM000663.1:g.168262482A>T	GRCh37
NC_000001.9:g.166529106A>T	NCBI36
NG_008244.1:g.17205A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.569A>T MANE Select	ENSP00000356795.3:p.Gln190Leu
ENST00000367821.7:c.569A>T	ENSP00000356795.3:p.Gln190Leu
ENST00000431969.5:c.366A>T
NM_005149.2:c.569A>T	NP_005140.1:p.Gln190Leu
NM_005149.3:c.569A>T MANE Select	NP_005140.1:p.Gln190Leu