Canonical Allele Identifier: CA40505288

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1668716
• ClinVar RCV Id: RCV003089047
• dbSNP Id: rs911651898
• gnomAD v4: 1-244864131-G-A
• MyVariant Identifiers: chr1:g.245027433G>A (hg19) ; chr1:g.244864131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864131G>A , CM000663.2:g.244864131G>A	GRCh38
NC_000001.10:g.245027433G>A , CM000663.1:g.245027433G>A	GRCh37
NC_000001.9:g.243094056G>A	NCBI36
NG_042184.1:g.5395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.177C>T	ENSP00000283179.10:p.Ser59=
ENST00000444376.7:c.177C>T	ENSP00000393151.2:p.Ser59=
ENST00000476241.2:n.362C>T
ENST00000638952.1:n.408C>T
ENST00000640218.2:c.177C>T MANE Select	ENSP00000491215.1:p.Ser59=
ENST00000640306.1:c.177C>T	ENSP00000491685.1:p.Ser59=
ENST00000649899.1:n.401C>T
ENST00000283179.13:c.177C>T	ENSP00000283179.9:p.Ser59=
ENST00000444376.6:c.177C>T	ENSP00000393151.2:p.Ser59=
ENST00000476241.1:n.361C>T
NM_004501.3:c.177C>T	NP_004492.2:p.Ser59=
NM_031844.2:c.177C>T	NP_114032.2:p.Ser59=
NM_031844.3:c.177C>T MANE Select	NP_114032.2:p.Ser59=