Canonical Allele Identifier: CA345497460

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2096441
• ClinVar RCV Id: RCV003028215
• MyVariant Identifiers: chr1:g.245027326C>A (hg19) ; chr1:g.244864024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864024C>A , CM000663.2:g.244864024C>A	GRCh38
NC_000001.10:g.245027326C>A , CM000663.1:g.245027326C>A	GRCh37
NC_000001.9:g.243093949C>A	NCBI36
NG_042184.1:g.5502G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.284G>T	ENSP00000283179.10:p.Gly95Val
ENST00000444376.7:c.284G>T	ENSP00000393151.2:p.Gly95Val
ENST00000476241.2:n.469G>T
ENST00000638475.1:c.68G>T	ENSP00000491305.1:p.Gly23Val
ENST00000638952.1:n.515G>T
ENST00000640218.2:c.284G>T MANE Select	ENSP00000491215.1:p.Gly95Val
ENST00000640306.1:c.284G>T	ENSP00000491685.1:p.Gly95Val
ENST00000649899.1:n.508G>T
ENST00000283179.13:c.284G>T	ENSP00000283179.9:p.Gly95Val
ENST00000444376.6:c.284G>T	ENSP00000393151.2:p.Gly95Val
ENST00000476241.1:n.468G>T
NM_004501.3:c.284G>T	NP_004492.2:p.Gly95Val
NM_031844.2:c.284G>T	NP_114032.2:p.Gly95Val
NM_031844.3:c.284G>T MANE Select	NP_114032.2:p.Gly95Val