Canonical Allele Identifier: CA1486812

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1578940
• ClinVar RCV Id: RCV003007049
• dbSNP Id: rs752671029
• ExAC: 1:245027235 C / T
• gnomAD v2: 1-245027235-C-T
• gnomAD v3: 1-244863933-C-T
• gnomAD v4: 1-244863933-C-T
• MyVariant Identifiers: chr1:g.245027235C>T (hg19) ; chr1:g.244863933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863933C>T , CM000663.2:g.244863933C>T	GRCh38
NC_000001.10:g.245027235C>T , CM000663.1:g.245027235C>T	GRCh37
NC_000001.9:g.243093858C>T	NCBI36
NG_042184.1:g.5593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.53G>A
ENST00000283179.14:c.375G>A	ENSP00000283179.10:p.Glu125=
ENST00000444376.7:c.375G>A	ENSP00000393151.2:p.Glu125=
ENST00000476241.2:n.560G>A
ENST00000638475.1:c.159G>A	ENSP00000491305.1:p.Glu53=
ENST00000638952.1:n.606G>A
ENST00000640218.2:c.375G>A MANE Select	ENSP00000491215.1:p.Glu125=
ENST00000640306.1:c.375G>A	ENSP00000491685.1:p.Glu125=
ENST00000640440.1:c.75G>A	ENSP00000491263.1:p.Glu25=
ENST00000649899.1:n.599G>A
ENST00000283179.13:c.375G>A	ENSP00000283179.9:p.Glu125=
ENST00000444376.6:c.375G>A	ENSP00000393151.2:p.Glu125=
ENST00000476241.1:n.559G>A
NM_004501.3:c.375G>A	NP_004492.2:p.Glu125=
NM_031844.2:c.375G>A	NP_114032.2:p.Glu125=
NM_031844.3:c.375G>A MANE Select	NP_114032.2:p.Glu125=