Canonical Allele Identifier: CA5271836
Gene: NUP188 HGNC NCBI

Linked Data

ClinVar Variation Id: 369621
ClinVar RCV Id: RCV000316700 RCV001672746
dbSNP Id: rs113241875
ExAC: 9:131710017 G / A
gnomAD v2: 9-131710017-G-A
gnomAD v3: 9-128947738-G-A
gnomAD v4: 9-128947738-G-A
MyVariant Identifiers: chr9:g.131710017G>A (hg19) chr9:g.128947738G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128947738G>A , CM000671.2:g.128947738G>A GRCh38
NC_000009.11:g.131710017G>A , CM000671.1:g.131710017G>A GRCh37
NC_000009.10:g.130749838G>A NCBI36
NG_017009.1:g.4996C>T , LRG_744:g.4996C>T
NG_033111.1:g.5046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372577.2:c.19G>A MANE Select ENSP00000361658.2:p.Gly7Arg
ENST00000482796.1:c.39-1451G>A ENSP00000417556.2:n.39-1451G>A
ENST00000491990.5:n.32G>A
NM_015354.2:c.19G>A NP_056169.1:p.Gly7Arg
NM_015354.3:c.19G>A MANE Select NP_056169.1:p.Gly7Arg
Search 100 bp 5'
Search 100 bp 3'