Canonical Allele Identifier: CA288165754
Gene: TTC19 HGNC NCBI

Linked Data

dbSNP Id: rs141067888
gnomAD v2: 17-15931845-T-C
gnomAD v3: 17-16028531-T-C
gnomAD v4: 17-16028531-T-C
MyVariant Identifiers: chr17:g.15931845T>C (hg19) chr17:g.16028531T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028531T>C , CM000679.2:g.16028531T>C GRCh38
NC_000017.10:g.15931845T>C , CM000679.1:g.15931845T>C GRCh37
NC_000017.9:g.15872570T>C NCBI36
NG_029806.1:g.34152T>C
NG_047111.1:g.193216A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1009T>C MANE Select ENSP00000261647.5:n.*1009T>C
ENST00000261647.9:c.*1009T>C ENSP00000261647.5:n.*1009T>C
ENST00000465567.1:n.2546T>C
ENST00000470649.1:c.247+1829T>C ENSP00000465627.1:n.247+1829T>C
ENST00000475723.5:c.2336T>C
ENST00000481107.1:n.2820T>C
NM_001271420.1:c.*1009T>C NP_001258349.1:n.*1009T>C
NM_017775.3:c.*1009T>C NP_060245.3:n.*1009T>C
XM_017024801.2:c.994+1829T>C XP_016880290.2:n.994+1829T>C
XM_017024802.2:c.994+1829T>C XP_016880291.2:n.994+1829T>C
NM_017775.4:c.*1009T>C MANE Select NP_060245.3:n.*1009T>C
NM_001271420.2:c.*1009T>C NP_001258349.1:n.*1009T>C
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