Canonical Allele Identifier: CA10648619
Gene: TTC19 HGNC NCBI

Linked Data

ClinVar Variation Id: 321966
ClinVar RCV Id: RCV000287348
dbSNP Id: rs886052633
MyVariant Identifiers: chr17:g.15931844G>A (hg19) chr17:g.16028530G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028530G>A , CM000679.2:g.16028530G>A GRCh38
NC_000017.10:g.15931844G>A , CM000679.1:g.15931844G>A GRCh37
NC_000017.9:g.15872569G>A NCBI36
NG_029806.1:g.34151G>A
NG_047111.1:g.193217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1008G>A MANE Select ENSP00000261647.5:n.*1008G>A
ENST00000261647.9:c.*1008G>A ENSP00000261647.5:n.*1008G>A
ENST00000465567.1:n.2545G>A
ENST00000470649.1:c.247+1828G>A ENSP00000465627.1:n.247+1828G>A
ENST00000475723.5:c.2335G>A
ENST00000481107.1:n.2819G>A
NM_001271420.1:c.*1008G>A NP_001258349.1:n.*1008G>A
NM_017775.3:c.*1008G>A NP_060245.3:n.*1008G>A
XM_017024801.2:c.994+1828G>A XP_016880290.2:n.994+1828G>A
XM_017024802.2:c.994+1828G>A XP_016880291.2:n.994+1828G>A
NM_017775.4:c.*1008G>A MANE Select NP_060245.3:n.*1008G>A
NM_001271420.2:c.*1008G>A NP_001258349.1:n.*1008G>A
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