Canonical Allele Identifier: CA981831991
Gene: TTC19 HGNC NCBI

Linked Data

ClinVar Variation Id: 889320
ClinVar RCV Id: RCV001123164
dbSNP Id: rs1971668947

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028525C>T , CM000679.2:g.16028525C>T GRCh38
NC_000017.10:g.15931839C>T , CM000679.1:g.15931839C>T GRCh37
NC_000017.9:g.15872564C>T NCBI36
NG_029806.1:g.34146C>T
NG_047111.1:g.193222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1003C>T MANE Select ENSP00000261647.5:n.*1003C>T
ENST00000261647.9:c.*1003C>T ENSP00000261647.5:n.*1003C>T
ENST00000465567.1:n.2540C>T
ENST00000470649.1:c.247+1823C>T ENSP00000465627.1:n.247+1823C>T
ENST00000475723.5:c.2330C>T
ENST00000481107.1:n.2814C>T
NM_001271420.1:c.*1003C>T NP_001258349.1:n.*1003C>T
NM_017775.3:c.*1003C>T NP_060245.3:n.*1003C>T
XM_017024801.2:c.994+1823C>T XP_016880290.2:n.994+1823C>T
XM_017024802.2:c.994+1823C>T XP_016880291.2:n.994+1823C>T
NM_017775.4:c.*1003C>T MANE Select NP_060245.3:n.*1003C>T
NM_001271420.2:c.*1003C>T NP_001258349.1:n.*1003C>T