Canonical Allele Identifier: CA2249869668
Gene: TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16027412C= , CM000679.2:g.16027412C= GRCh38
NC_000017.10:g.15930726C= , CM000679.1:g.15930726C= GRCh37
NC_000017.9:g.15871451C= NCBI36
NG_029806.1:g.33033C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.1033C= MANE Select ENSP00000261647.5:p.Leu345=
ENST00000261647.9:c.1033C= ENSP00000261647.5:p.Leu345=
ENST00000465567.1:n.1427C=
ENST00000470649.1:c.247+710C= ENSP00000465627.1:n.247+710C=
ENST00000475723.5:c.1217C=
ENST00000481107.1:n.1701C=
ENST00000497842.6:n.1237C=
NM_001271420.1:c.712C= NP_001258349.1:p.Leu238=
NM_017775.3:c.1033C= NP_060245.3:p.Leu345=
XM_017024801.2:c.994+710C= XP_016880290.2:n.994+710C=
XM_017024802.2:c.994+710C= XP_016880291.2:n.994+710C=
NM_017775.4:c.1033C= MANE Select NP_060245.3:p.Leu345=
NM_001271420.2:c.712C= NP_001258349.1:p.Leu238=