Canonical Allele Identifier: CA498040293
Gene: TTC19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.15930821T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16027507T>C , CM000679.2:g.16027507T>C GRCh38
NC_000017.10:g.15930821T>C , CM000679.1:g.15930821T>C GRCh37
NC_000017.9:g.15871546T>C NCBI36
NG_029806.1:g.33128T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.1128T>C MANE Select ENSP00000261647.5:p.Asn376=
ENST00000261647.9:c.1128T>C ENSP00000261647.5:p.Asn376=
ENST00000465567.1:n.1522T>C
ENST00000470649.1:c.247+805T>C ENSP00000465627.1:n.247+805T>C
ENST00000475723.5:c.1312T>C
ENST00000481107.1:n.1796T>C
ENST00000497842.6:n.1332T>C
NM_001271420.1:c.807T>C NP_001258349.1:p.Asn269=
NM_017775.3:c.1128T>C NP_060245.3:p.Asn376=
XM_017024801.2:c.994+805T>C XP_016880290.2:n.994+805T>C
XM_017024802.2:c.994+805T>C XP_016880291.2:n.994+805T>C
NM_017775.4:c.1128T>C MANE Select NP_060245.3:p.Asn376=
NM_001271420.2:c.807T>C NP_001258349.1:p.Asn269=