Canonical Allele Identifier: CA345497311

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1732689
• ClinVar RCV Id: RCV002454928
• MyVariant Identifiers: chr1:g.245027255C>T (hg19) ; chr1:g.244863953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863953C>T , CM000663.2:g.244863953C>T	GRCh38
NC_000001.10:g.245027255C>T , CM000663.1:g.245027255C>T	GRCh37
NC_000001.9:g.243093878C>T	NCBI36
NG_042184.1:g.5573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.33G>A
ENST00000283179.14:c.355G>A	ENSP00000283179.10:p.Gly119Ser
ENST00000444376.7:c.355G>A	ENSP00000393151.2:p.Gly119Ser
ENST00000476241.2:n.540G>A
ENST00000638475.1:c.139G>A	ENSP00000491305.1:p.Gly47Ser
ENST00000638952.1:n.586G>A
ENST00000640218.2:c.355G>A MANE Select	ENSP00000491215.1:p.Gly119Ser
ENST00000640306.1:c.355G>A	ENSP00000491685.1:p.Gly119Ser
ENST00000640440.1:c.55G>A	ENSP00000491263.1:p.Gly19Ser
ENST00000649899.1:n.579G>A
ENST00000283179.13:c.355G>A	ENSP00000283179.9:p.Gly119Ser
ENST00000444376.6:c.355G>A	ENSP00000393151.2:p.Gly119Ser
ENST00000476241.1:n.539G>A
NM_004501.3:c.355G>A	NP_004492.2:p.Gly119Ser
NM_031844.2:c.355G>A	NP_114032.2:p.Gly119Ser
NM_031844.3:c.355G>A MANE Select	NP_114032.2:p.Gly119Ser