Canonical Allele Identifier: CA424403173

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2877547
• ClinVar RCV Id: RCV003757935
• MyVariant Identifiers: chr1:g.245027193C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863891C>T , CM000663.2:g.244863891C>T	GRCh38
NC_000001.10:g.245027193C>T , CM000663.1:g.245027193C>T	GRCh37
NC_000001.9:g.243093816C>T	NCBI36
NG_042184.1:g.5635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.95G>A
ENST00000283179.14:c.417G>A	ENSP00000283179.10:p.Gln139=
ENST00000444376.7:c.417G>A	ENSP00000393151.2:p.Gln139=
ENST00000476241.2:n.602G>A
ENST00000638475.1:c.201G>A	ENSP00000491305.1:p.Gln67=
ENST00000638952.1:n.648G>A
ENST00000640218.2:c.417G>A MANE Select	ENSP00000491215.1:p.Gln139=
ENST00000640306.1:c.417G>A	ENSP00000491685.1:p.Gln139=
ENST00000640440.1:c.117G>A	ENSP00000491263.1:p.Gln39=
ENST00000649899.1:n.641G>A
ENST00000283179.13:c.417G>A	ENSP00000283179.9:p.Gln139=
ENST00000444376.6:c.417G>A	ENSP00000393151.2:p.Gln139=
ENST00000476241.1:n.601G>A
NM_004501.3:c.417G>A	NP_004492.2:p.Gln139=
NM_031844.2:c.417G>A	NP_114032.2:p.Gln139=
NM_031844.3:c.417G>A MANE Select	NP_114032.2:p.Gln139=