Canonical Allele Identifier: CA343107065

Gene: TBX19

Linked Data

• MyVariant Identifiers: chr1:g.168262486C>G (hg19) ; chr1:g.168293248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293248C>G , CM000663.2:g.168293248C>G	GRCh38
NC_000001.10:g.168262486C>G , CM000663.1:g.168262486C>G	GRCh37
NC_000001.9:g.166529110C>G	NCBI36
NG_008244.1:g.17209C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.573C>G MANE Select	ENSP00000356795.3:p.Phe191Leu
ENST00000367821.7:c.573C>G	ENSP00000356795.3:p.Phe191Leu
ENST00000431969.5:c.370C>G
NM_005149.2:c.573C>G	NP_005140.1:p.Phe191Leu
NM_005149.3:c.573C>G MANE Select	NP_005140.1:p.Phe191Leu