Canonical Allele Identifier: CA345497103

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 589399
• ClinVar RCV Id: RCV002318810
• dbSNP Id: rs781659437
• gnomAD v4: 1-244863869-C-A
• MyVariant Identifiers: chr1:g.245027171C>A (hg19) ; chr1:g.244863869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863869C>A , CM000663.2:g.244863869C>A	GRCh38
NC_000001.10:g.245027171C>A , CM000663.1:g.245027171C>A	GRCh37
NC_000001.9:g.243093794C>A	NCBI36
NG_042184.1:g.5657G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.117G>T
ENST00000283179.14:c.439G>T	ENSP00000283179.10:p.Asp147Tyr
ENST00000444376.7:c.439G>T	ENSP00000393151.2:p.Asp147Tyr
ENST00000476241.2:n.624G>T
ENST00000638475.1:c.223G>T	ENSP00000491305.1:p.Asp75Tyr
ENST00000638952.1:n.670G>T
ENST00000640218.2:c.439G>T MANE Select	ENSP00000491215.1:p.Asp147Tyr
ENST00000640306.1:c.439G>T	ENSP00000491685.1:p.Asp147Tyr
ENST00000640440.1:c.139G>T	ENSP00000491263.1:p.Asp47Tyr
ENST00000649899.1:n.663G>T
ENST00000283179.13:c.439G>T	ENSP00000283179.9:p.Asp147Tyr
ENST00000444376.6:c.439G>T	ENSP00000393151.2:p.Asp147Tyr
ENST00000476241.1:n.623G>T
NM_004501.3:c.439G>T	NP_004492.2:p.Asp147Tyr
NM_031844.2:c.439G>T	NP_114032.2:p.Asp147Tyr
NM_031844.3:c.439G>T MANE Select	NP_114032.2:p.Asp147Tyr