Canonical Allele Identifier: CA2581296547
Gene: TTC19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028534T>A , CM000679.2:g.16028534T>A GRCh38
NC_000017.10:g.15931848T>A , CM000679.1:g.15931848T>A GRCh37
NC_000017.9:g.15872573T>A NCBI36
NG_029806.1:g.34155T>A
NG_047111.1:g.193213A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1012T>A MANE Select ENSP00000261647.5:n.*1012T>A
ENST00000261647.9:c.*1012T>A ENSP00000261647.5:n.*1012T>A
ENST00000465567.1:n.2549T>A
ENST00000470649.1:c.247+1832T>A ENSP00000465627.1:n.247+1832T>A
ENST00000475723.5:c.2339T>A
ENST00000481107.1:n.2823T>A
NM_001271420.1:c.*1012T>A NP_001258349.1:n.*1012T>A
NM_017775.3:c.*1012T>A NP_060245.3:n.*1012T>A
XM_017024801.2:c.994+1832T>A XP_016880290.2:n.994+1832T>A
XM_017024802.2:c.994+1832T>A XP_016880291.2:n.994+1832T>A
NM_017775.4:c.*1012T>A MANE Select NP_060245.3:n.*1012T>A
NM_001271420.2:c.*1012T>A NP_001258349.1:n.*1012T>A
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