Canonical Allele Identifier: CA343107090
Gene: TBX19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293261G>A , CM000663.2:g.168293261G>A GRCh38
NC_000001.10:g.168262499G>A , CM000663.1:g.168262499G>A GRCh37
NC_000001.9:g.166529123G>A NCBI36
NG_008244.1:g.17222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.586G>A MANE Select ENSP00000356795.3:p.Ala196Thr
ENST00000367821.7:c.586G>A ENSP00000356795.3:p.Ala196Thr
ENST00000431969.5:c.383G>A
NM_005149.2:c.586G>A NP_005140.1:p.Ala196Thr
NM_005149.3:c.586G>A MANE Select NP_005140.1:p.Ala196Thr