Canonical Allele Identifier: CA638660077
Gene: RSPH14 HGNC NCBI

Linked Data

dbSNP Id: rs1361519404
gnomAD v2: 22-23521100-A-C
gnomAD v3: 22-23178913-A-C
gnomAD v4: 22-23178913-A-C
MyVariant Identifiers: chr22:g.23521100A>C (hg19) chr22:g.23178913A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23178913A>C , CM000684.2:g.23178913A>C GRCh38
NC_000022.10:g.23521100A>C , CM000684.1:g.23521100A>C GRCh37
NC_000022.9:g.21851100A>C NCBI36
NG_009244.1:g.3549A>C
NG_009244.2:g.3549A>C

Transcript Alleles

HGVS Amino-acid change
XM_017028774.1:c.-53+1005T>G XP_016884263.1:n.-53+1005T>G
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