Canonical Allele Identifier: CA5337213
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136439399A>G
GRCh37 chr9:g.139333851A>G
gnomAD v2:
9:139333851 A / G
gnomAD v3:
9:136439399 A / G
gnomAD v4:
chr9-136439399-A-G
Joint Max Group AF 0.00366667 (AFR)
Genomes Max Group AF 0.00360163 (AFR)
Exomes Max Group AF 0.00337322 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136439399A>G , CM000671.2:g.136439399A>G GRCh38
NC_000009.11:g.139333851A>G , CM000671.1:g.139333851A>G GRCh37
NC_000009.10:g.138453672A>G NCBI36
NG_016126.1:g.5406T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.21T>C MANE Select ENSP00000360777.3:p.Asn7=
ENST00000635815.1:n.425T>C
ENST00000676019.1:c.21T>C ENSP00000501984.1:p.Asn7=
ENST00000371712.3:c.21T>C ENSP00000360777.3:p.Asn7=
NM_019892.4:c.21T>C NP_063945.2:p.Asn7=
XM_005266094.2:c.21T>C XP_005266151.1:p.Asn7=
XR_929828.1:n.461T>C
NM_001318502.1:c.21T>C NP_001305431.1:p.Asn7=
NM_019892.5:c.21T>C NP_063945.2:p.Asn7=
XM_017014926.1:c.21T>C XP_016870415.1:p.Asn7=
XR_929828.2:n.463T>C
NM_019892.6:c.21T>C MANE Select NP_063945.2:p.Asn7=
NM_001318502.2:c.21T>C NP_001305431.1:p.Asn7=
Search 100 bp 5'
Search 100 bp 3'