Canonical Allele Identifier: CA345496350

Gene: HNRNPU

Linked Data

• dbSNP Id: rs201849132
• gnomAD v2: 1-245026999-C-T
• gnomAD v4: 1-244863697-C-T
• MyVariant Identifiers: chr1:g.245026999C>T (hg19) ; chr1:g.244863697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863697C>T , CM000663.2:g.244863697C>T	GRCh38
NC_000001.10:g.245026999C>T , CM000663.1:g.245026999C>T	GRCh37
NC_000001.9:g.243093622C>T	NCBI36
NG_042184.1:g.5829G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.289G>A
ENST00000283179.14:c.611G>A	ENSP00000283179.10:p.Arg204Lys
ENST00000444376.7:c.611G>A	ENSP00000393151.2:p.Arg204Lys
ENST00000476241.2:n.796G>A
ENST00000638475.1:c.395G>A	ENSP00000491305.1:p.Arg132Lys
ENST00000638952.1:n.842G>A
ENST00000640218.2:c.611G>A MANE Select	ENSP00000491215.1:p.Arg204Lys
ENST00000640306.1:c.611G>A	ENSP00000491685.1:p.Arg204Lys
ENST00000640440.1:c.311G>A	ENSP00000491263.1:p.Arg104Lys
ENST00000649899.1:n.835G>A
ENST00000283179.13:c.611G>A	ENSP00000283179.9:p.Arg204Lys
ENST00000444376.6:c.611G>A	ENSP00000393151.2:p.Arg204Lys
ENST00000476241.1:n.795G>A
NM_004501.3:c.611G>A	NP_004492.2:p.Arg204Lys
NM_031844.2:c.611G>A	NP_114032.2:p.Arg204Lys
NM_031844.3:c.611G>A MANE Select	NP_114032.2:p.Arg204Lys