Canonical Allele Identifier: CA16603678
Gene: HNRNPU HGNC NCBI

Linked Data

ClinVar Variation Id: 392665
dbSNP Id: rs1057524584

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244863955G>T , CM000663.2:g.244863955G>T GRCh38
NC_000001.10:g.245027257G>T , CM000663.1:g.245027257G>T GRCh37
NC_000001.9:g.243093880G>T NCBI36
NG_042184.1:g.5571C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000704074.1:c.31C>A
ENST00000283179.14:c.353C>A ENSP00000283179.10:p.Ser118Ter
ENST00000444376.7:c.353C>A ENSP00000393151.2:p.Ser118Ter
ENST00000476241.2:n.538C>A
ENST00000638475.1:c.137C>A ENSP00000491305.1:p.Ser46Ter
ENST00000638952.1:n.584C>A
ENST00000640218.2:c.353C>A MANE Select ENSP00000491215.1:p.Ser118Ter
ENST00000640306.1:c.353C>A ENSP00000491685.1:p.Ser118Ter
ENST00000640440.1:c.53C>A ENSP00000491263.1:p.Ser18Ter
ENST00000649899.1:n.577C>A
ENST00000283179.13:c.353C>A ENSP00000283179.9:p.Ser118Ter
ENST00000444376.6:c.353C>A ENSP00000393151.2:p.Ser118Ter
ENST00000476241.1:n.537C>A
NM_004501.3:c.353C>A NP_004492.2:p.Ser118Ter
NM_031844.2:c.353C>A NP_114032.2:p.Ser118Ter
NM_031844.3:c.353C>A MANE Select NP_114032.2:p.Ser118Ter