Canonical Allele Identifier: CA2249814832
Gene: TTC19 HGNC NCBI
ZSWIM7 HGNC NCBI

Linked Data

dbSNP Id: rs1970652233
gnomAD v4: 17-15999717-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15999717C>T , CM000679.2:g.15999717C>T GRCh38
NC_000017.10:g.15903031C>T , CM000679.1:g.15903031C>T GRCh37
NC_000017.9:g.15843756C>T NCBI36
NG_029806.1:g.5338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.9:c.-132C>T (TTC19) ENSP00000261647.5:n.-132C>T
ENST00000491631.5:c.-123G>A (ZSWIM7) ENSP00000462598.1:n.-123G>A
NM_001271420.1:c.-590C>T (TTC19) NP_001258349.1:n.-590C>T
NM_017775.3:c.-132C>T (TTC19) NP_060245.3:n.-132C>T
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