Canonical Allele Identifier: CA424402563

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2147284
• ClinVar RCV Id: RCV003060819
• gnomAD v4: 1-244863765-C-T
• MyVariant Identifiers: chr1:g.245027067C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863765C>T , CM000663.2:g.244863765C>T	GRCh38
NC_000001.10:g.245027067C>T , CM000663.1:g.245027067C>T	GRCh37
NC_000001.9:g.243093690C>T	NCBI36
NG_042184.1:g.5761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.221G>A
ENST00000283179.14:c.543G>A	ENSP00000283179.10:p.Lys181=
ENST00000444376.7:c.543G>A	ENSP00000393151.2:p.Lys181=
ENST00000476241.2:n.728G>A
ENST00000638475.1:c.327G>A	ENSP00000491305.1:p.Lys109=
ENST00000638952.1:n.774G>A
ENST00000640218.2:c.543G>A MANE Select	ENSP00000491215.1:p.Lys181=
ENST00000640306.1:c.543G>A	ENSP00000491685.1:p.Lys181=
ENST00000640440.1:c.243G>A	ENSP00000491263.1:p.Lys81=
ENST00000649899.1:n.767G>A
ENST00000283179.13:c.543G>A	ENSP00000283179.9:p.Lys181=
ENST00000444376.6:c.543G>A	ENSP00000393151.2:p.Lys181=
ENST00000476241.1:n.727G>A
NM_004501.3:c.543G>A	NP_004492.2:p.Lys181=
NM_031844.2:c.543G>A	NP_114032.2:p.Lys181=
NM_031844.3:c.543G>A MANE Select	NP_114032.2:p.Lys181=