Canonical Allele Identifier: CA672246953
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs1320586351
MyVariant Identifiers: chr11:g.117188210T>C (hg19) chr11:g.117317494T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317494T>C , CM000673.2:g.117317494T>C GRCh38
NC_000011.9:g.117188210T>C , CM000673.1:g.117188210T>C GRCh37
NC_000011.8:g.116693420T>C NCBI36
NG_029372.1:g.3763A>G
NG_033032.1:g.717T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525734.5:c.-98+2766T>C ENSP00000436609.1:n.-98+2766T>C
XM_017017364.1:c.-98+961T>C XP_016872853.1:n.-98+961T>C
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