Canonical Allele Identifier: CA5271832

Gene: NUP188 DOLK

Linked Data

• ClinVar Variation Id: 365209
• ClinVar RCV Id: RCV000378227 ; RCV002523737
• dbSNP Id: rs746695959
• ExAC: 9:131710006 C / T
• gnomAD v2: 9-131710006-C-T
• gnomAD v3: 9-128947727-C-T
• gnomAD v4: 9-128947727-C-T
• MyVariant Identifiers: chr9:g.131710006C>T (hg19) ; chr9:g.128947727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128947727C>T , CM000671.2:g.128947727C>T	GRCh38
NC_000009.11:g.131710006C>T , CM000671.1:g.131710006C>T	GRCh37
NC_000009.10:g.130749827C>T	NCBI36
NG_017009.1:g.5007G>A , LRG_744:g.5007G>A
NG_033111.1:g.5035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372577.2:c.8C>T (NUP188) MANE Select	ENSP00000361658.2:p.Ala3Val
ENST00000482796.1:c.39-1462C>T	ENSP00000417556.2:n.39-1462C>T
ENST00000491990.5:n.21C>T (NUP188)
NM_014908.3:c.-424G>A , LRG_744t1:c.-424G>A (DOLK)	NP_055723.1:n.-424G>A
NM_015354.2:c.8C>T (NUP188)	NP_056169.1:p.Ala3Val
NM_015354.3:c.8C>T (NUP188) MANE Select	NP_056169.1:p.Ala3Val