Canonical Allele Identifier: CA288165719
Gene: TTC19 HGNC NCBI

Linked Data

dbSNP Id: rs1056903879
gnomAD v3: 17-16028516-A-C
gnomAD v4: 17-16028516-A-C
MyVariant Identifiers: chr17:g.15931830A>C (hg19) chr17:g.16028516A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028516A>C , CM000679.2:g.16028516A>C GRCh38
NC_000017.10:g.15931830A>C , CM000679.1:g.15931830A>C GRCh37
NC_000017.9:g.15872555A>C NCBI36
NG_029806.1:g.34137A>C
NG_047111.1:g.193231T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*994A>C MANE Select ENSP00000261647.5:n.*994A>C
ENST00000261647.9:c.*994A>C ENSP00000261647.5:n.*994A>C
ENST00000465567.1:n.2531A>C
ENST00000470649.1:c.247+1814A>C ENSP00000465627.1:n.247+1814A>C
ENST00000475723.5:c.2321A>C
ENST00000481107.1:n.2805A>C
NM_001271420.1:c.*994A>C NP_001258349.1:n.*994A>C
NM_017775.3:c.*994A>C NP_060245.3:n.*994A>C
XM_017024801.2:c.994+1814A>C XP_016880290.2:n.994+1814A>C
XM_017024802.2:c.994+1814A>C XP_016880291.2:n.994+1814A>C
NM_017775.4:c.*994A>C MANE Select NP_060245.3:n.*994A>C
NM_001271420.2:c.*994A>C NP_001258349.1:n.*994A>C
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