Canonical Allele Identifier: CA288165736
Gene: TTC19 HGNC NCBI

Linked Data

ClinVar Variation Id: 889319
ClinVar RCV Id: RCV001123163
dbSNP Id: rs945625353
MyVariant Identifiers: chr17:g.15931835T>C (hg19) chr17:g.16028521T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028521T>C , CM000679.2:g.16028521T>C GRCh38
NC_000017.10:g.15931835T>C , CM000679.1:g.15931835T>C GRCh37
NC_000017.9:g.15872560T>C NCBI36
NG_029806.1:g.34142T>C
NG_047111.1:g.193226A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*999T>C MANE Select ENSP00000261647.5:n.*999T>C
ENST00000261647.9:c.*999T>C ENSP00000261647.5:n.*999T>C
ENST00000465567.1:n.2536T>C
ENST00000470649.1:c.247+1819T>C ENSP00000465627.1:n.247+1819T>C
ENST00000475723.5:c.2326T>C
ENST00000481107.1:n.2810T>C
NM_001271420.1:c.*999T>C NP_001258349.1:n.*999T>C
NM_017775.3:c.*999T>C NP_060245.3:n.*999T>C
XM_017024801.2:c.994+1819T>C XP_016880290.2:n.994+1819T>C
XM_017024802.2:c.994+1819T>C XP_016880291.2:n.994+1819T>C
NM_017775.4:c.*999T>C MANE Select NP_060245.3:n.*999T>C
NM_001271420.2:c.*999T>C NP_001258349.1:n.*999T>C
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