Canonical Allele Identifier: CA40505134

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1445926
• ClinVar RCV Id: RCV002331511 ; RCV002563453
• dbSNP Id: rs375569535
• gnomAD v3: 1-244863862-T-C
• gnomAD v4: 1-244863862-T-C
• MyVariant Identifiers: chr1:g.245027164T>C (hg19) ; chr1:g.244863862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863862T>C , CM000663.2:g.244863862T>C	GRCh38
NC_000001.10:g.245027164T>C , CM000663.1:g.245027164T>C	GRCh37
NC_000001.9:g.243093787T>C	NCBI36
NG_042184.1:g.5664A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.124A>G
ENST00000283179.14:c.446A>G	ENSP00000283179.10:p.Glu149Gly
ENST00000444376.7:c.446A>G	ENSP00000393151.2:p.Glu149Gly
ENST00000476241.2:n.631A>G
ENST00000638475.1:c.230A>G	ENSP00000491305.1:p.Glu77Gly
ENST00000638952.1:n.677A>G
ENST00000640218.2:c.446A>G MANE Select	ENSP00000491215.1:p.Glu149Gly
ENST00000640306.1:c.446A>G	ENSP00000491685.1:p.Glu149Gly
ENST00000640440.1:c.146A>G	ENSP00000491263.1:p.Glu49Gly
ENST00000649899.1:n.670A>G
ENST00000283179.13:c.446A>G	ENSP00000283179.9:p.Glu149Gly
ENST00000444376.6:c.446A>G	ENSP00000393151.2:p.Glu149Gly
ENST00000476241.1:n.630A>G
NM_004501.3:c.446A>G	NP_004492.2:p.Glu149Gly
NM_031844.2:c.446A>G	NP_114032.2:p.Glu149Gly
NM_031844.3:c.446A>G MANE Select	NP_114032.2:p.Glu149Gly