Canonical Allele Identifier: CA345497228

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1465646444
• gnomAD v2: 1-245027219-C-G
• gnomAD v4: 1-244863917-C-G
• MyVariant Identifiers: chr1:g.245027219C>G (hg19) ; chr1:g.244863917C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863917C>G , CM000663.2:g.244863917C>G	GRCh38
NC_000001.10:g.245027219C>G , CM000663.1:g.245027219C>G	GRCh37
NC_000001.9:g.243093842C>G	NCBI36
NG_042184.1:g.5609G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.69G>C
ENST00000283179.14:c.391G>C	ENSP00000283179.10:p.Glu131Gln
ENST00000444376.7:c.391G>C	ENSP00000393151.2:p.Glu131Gln
ENST00000476241.2:n.576G>C
ENST00000638475.1:c.175G>C	ENSP00000491305.1:p.Glu59Gln
ENST00000638952.1:n.622G>C
ENST00000640218.2:c.391G>C MANE Select	ENSP00000491215.1:p.Glu131Gln
ENST00000640306.1:c.391G>C	ENSP00000491685.1:p.Glu131Gln
ENST00000640440.1:c.91G>C	ENSP00000491263.1:p.Glu31Gln
ENST00000649899.1:n.615G>C
ENST00000283179.13:c.391G>C	ENSP00000283179.9:p.Glu131Gln
ENST00000444376.6:c.391G>C	ENSP00000393151.2:p.Glu131Gln
ENST00000476241.1:n.575G>C
NM_004501.3:c.391G>C	NP_004492.2:p.Glu131Gln
NM_031844.2:c.391G>C	NP_114032.2:p.Glu131Gln
NM_031844.3:c.391G>C MANE Select	NP_114032.2:p.Glu131Gln