Canonical Allele Identifier: CA498040296
Gene: TTC19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.15930824T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16027510T>C , CM000679.2:g.16027510T>C GRCh38
NC_000017.10:g.15930824T>C , CM000679.1:g.15930824T>C GRCh37
NC_000017.9:g.15871549T>C NCBI36
NG_029806.1:g.33131T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.1131T>C MANE Select ENSP00000261647.5:p.Ser377=
ENST00000261647.9:c.1131T>C ENSP00000261647.5:p.Ser377=
ENST00000465567.1:n.1525T>C
ENST00000470649.1:c.247+808T>C ENSP00000465627.1:n.247+808T>C
ENST00000475723.5:c.1315T>C
ENST00000481107.1:n.1799T>C
ENST00000497842.6:n.1335T>C
NM_001271420.1:c.810T>C NP_001258349.1:p.Ser270=
NM_017775.3:c.1131T>C NP_060245.3:p.Ser377=
XM_017024801.2:c.994+808T>C XP_016880290.2:n.994+808T>C
XM_017024802.2:c.994+808T>C XP_016880291.2:n.994+808T>C
NM_017775.4:c.1131T>C MANE Select NP_060245.3:p.Ser377=
NM_001271420.2:c.810T>C NP_001258349.1:p.Ser270=