Canonical Allele Identifier: CA345497427

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1003533
• ClinVar RCV Id: RCV002541914
• dbSNP Id: rs1680930955
• MyVariant Identifiers: chr1:g.245027309C>G (hg19) ; chr1:g.244864007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864007C>G , CM000663.2:g.244864007C>G	GRCh38
NC_000001.10:g.245027309C>G , CM000663.1:g.245027309C>G	GRCh37
NC_000001.9:g.243093932C>G	NCBI36
NG_042184.1:g.5519G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.301G>C	ENSP00000283179.10:p.Gly101Arg
ENST00000444376.7:c.301G>C	ENSP00000393151.2:p.Gly101Arg
ENST00000476241.2:n.486G>C
ENST00000638475.1:c.85G>C	ENSP00000491305.1:p.Gly29Arg
ENST00000638952.1:n.532G>C
ENST00000640218.2:c.301G>C MANE Select	ENSP00000491215.1:p.Gly101Arg
ENST00000640306.1:c.301G>C	ENSP00000491685.1:p.Gly101Arg
ENST00000640440.1:c.1G>C	ENSP00000491263.1:p.Gly1Arg
ENST00000649899.1:n.525G>C
ENST00000283179.13:c.301G>C	ENSP00000283179.9:p.Gly101Arg
ENST00000444376.6:c.301G>C	ENSP00000393151.2:p.Gly101Arg
ENST00000476241.1:n.485G>C
NM_004501.3:c.301G>C	NP_004492.2:p.Gly101Arg
NM_031844.2:c.301G>C	NP_114032.2:p.Gly101Arg
NM_031844.3:c.301G>C MANE Select	NP_114032.2:p.Gly101Arg