Canonical Allele Identifier: CA12670608
Gene: ISPD HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10270805

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16460517A>G , CM000669.2:g.16460517A>G GRCh38
NC_000007.12:g.16466667A>G NCBI36
NC_000007.13:g.16500142A>G , CM000669.1:g.16500142A>G GRCh37

Transcript Alleles

HGVS Amino-acid change
XM_011515502.1:c.-47+35863T>C XP_011513804.1:p.=
XM_011515503.1:c.-47+35863T>C XP_011513805.1:p.=
XM_011515504.1:c.-47+35863T>C XP_011513806.1:p.=
XM_011515505.1:c.-47+35863T>C XP_011513807.1:p.=
XM_011515506.1:c.-47+35863T>C XP_011513808.1:p.=
XM_011515507.1:c.-47+35863T>C XP_011513809.1:p.=
XR_927059.1:n.318A>G