Canonical Allele Identifier: CA345497154

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1805801
• ClinVar RCV Id: RCV002472219
• MyVariant Identifiers: chr1:g.245027189C>T (hg19) ; chr1:g.244863887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863887C>T , CM000663.2:g.244863887C>T	GRCh38
NC_000001.10:g.245027189C>T , CM000663.1:g.245027189C>T	GRCh37
NC_000001.9:g.243093812C>T	NCBI36
NG_042184.1:g.5639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.99G>A
ENST00000283179.14:c.421G>A	ENSP00000283179.10:p.Gly141Arg
ENST00000444376.7:c.421G>A	ENSP00000393151.2:p.Gly141Arg
ENST00000476241.2:n.606G>A
ENST00000638475.1:c.205G>A	ENSP00000491305.1:p.Gly69Arg
ENST00000638952.1:n.652G>A
ENST00000640218.2:c.421G>A MANE Select	ENSP00000491215.1:p.Gly141Arg
ENST00000640306.1:c.421G>A	ENSP00000491685.1:p.Gly141Arg
ENST00000640440.1:c.121G>A	ENSP00000491263.1:p.Gly41Arg
ENST00000649899.1:n.645G>A
ENST00000283179.13:c.421G>A	ENSP00000283179.9:p.Gly141Arg
ENST00000444376.6:c.421G>A	ENSP00000393151.2:p.Gly141Arg
ENST00000476241.1:n.605G>A
NM_004501.3:c.421G>A	NP_004492.2:p.Gly141Arg
NM_031844.2:c.421G>A	NP_114032.2:p.Gly141Arg
NM_031844.3:c.421G>A MANE Select	NP_114032.2:p.Gly141Arg