Canonical Allele Identifier: CA201636907

Gene: INPP5E

Linked Data

• dbSNP Id: rs975301515
• gnomAD v2: 9-139323069-G-A
• gnomAD v3: 9-136428617-G-A
• gnomAD v4: 9-136428617-G-A
• MyVariant Identifiers: chr9:g.139323069G>A (hg19) ; chr9:g.136428617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136428617G>A , CM000671.2:g.136428617G>A	GRCh38
NC_000009.11:g.139323069G>A , CM000671.1:g.139323069G>A	GRCh37
NC_000009.10:g.138442890G>A	NCBI36
NG_016126.1:g.16188C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.4:c.*1058C>T	NP_063945.2:n.*1058C>T
XM_005266094.2:c.*1058C>T	XP_005266151.1:n.*1058C>T
NM_001318502.1:c.*1058C>T	NP_001305431.1:n.*1058C>T
NM_019892.5:c.*1058C>T	NP_063945.2:n.*1058C>T