Canonical Allele Identifier: CA2603851194
Gene: INPP5E HGNC NCBI

Linked Data

dbSNP Id: rs2131602893
gnomAD v3: 9-136428758-A-G
gnomAD v4: 9-136428758-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136428758A>G , CM000671.2:g.136428758A>G GRCh38
NC_000009.11:g.139323210A>G , CM000671.1:g.139323210A>G GRCh37
NC_000009.10:g.138443031A>G NCBI36
NG_016126.1:g.16047T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371712.4:c.*917T>C MANE Select ENSP00000360777.3:n.*917T>C
ENST00000676019.1:c.*917T>C ENSP00000501984.1:n.*917T>C
ENST00000371712.3:c.*917T>C ENSP00000360777.3:n.*917T>C
NM_019892.4:c.*917T>C NP_063945.2:n.*917T>C
XM_005266094.2:c.*917T>C XP_005266151.1:n.*917T>C
NM_001318502.1:c.*917T>C NP_001305431.1:n.*917T>C
NM_019892.5:c.*917T>C NP_063945.2:n.*917T>C
XM_017014926.1:c.*996T>C XP_016870415.1:n.*996T>C
NM_019892.6:c.*917T>C MANE Select NP_063945.2:n.*917T>C
NM_001318502.2:c.*917T>C NP_001305431.1:n.*917T>C
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