Canonical Allele Identifier: CA2249871331
Gene: TTC19 HGNC NCBI

Linked Data

dbSNP Id: rs1971670921
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028560_16028564dup , CM000679.2:g.16028560_16028564dup GRCh38
NC_000017.10:g.15931874_15931878dup , CM000679.1:g.15931874_15931878dup GRCh37
NC_000017.9:g.15872599_15872603dup NCBI36
NG_029806.1:g.34181_34185dup
NG_047111.1:g.193184_193188dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1038_*1042dup MANE Select ENSP00000261647.5:n.*1038_*1042dup
ENST00000261647.9:c.*1038_*1042dup ENSP00000261647.5:n.*1038_*1042dup
ENST00000465567.1:n.2575_2579dup
ENST00000470649.1:c.247+1858_247+1862dup ENSP00000465627.1:n.247+1858_247+1862dup
ENST00000475723.5:c.2365_2369dup
ENST00000481107.1:n.2849_2853dup
NM_001271420.1:c.*1038_*1042dup NP_001258349.1:n.*1038_*1042dup
NM_017775.3:c.*1038_*1042dup NP_060245.3:n.*1038_*1042dup
XM_017024801.2:c.994+1858_994+1862dup XP_016880290.2:n.994+1858_994+1862dup
XM_017024802.2:c.994+1858_994+1862dup XP_016880291.2:n.994+1858_994+1862dup
NM_017775.4:c.*1038_*1042dup MANE Select NP_060245.3:n.*1038_*1042dup
NM_001271420.2:c.*1038_*1042dup NP_001258349.1:n.*1038_*1042dup
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