ClinGen Allele Registry
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Canonical Allele Identifier:
CA209782126
Gene: IMPDH1P5
HGNC
NCBI
Linked Data
dbSNP Id:
rs758246272
gnomAD v2:
10-79540999-C-T
gnomAD v3:
10-77781241-C-T
gnomAD v4:
10-77781241-C-T
MyVariant Identifiers:
chr10:g.79540999C>T (hg19)
chr10:g.77781241C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.77781241C>T , CM000672.2:g.77781241C>T
GRCh38
NC_000010.10:g.79540999C>T , CM000672.1:g.79540999C>T
GRCh37
NC_000010.9:g.79211005C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000439688.1:n.636G>A
Search 100 bp 5'
Search 100 bp 3'