Canonical Allele Identifier: CA345497392

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2239840
• ClinVar RCV Id: RCV002714222
• gnomAD v4: 1-244863993-C-G
• MyVariant Identifiers: chr1:g.245027295C>G (hg19) ; chr1:g.244863993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863993C>G , CM000663.2:g.244863993C>G	GRCh38
NC_000001.10:g.245027295C>G , CM000663.1:g.245027295C>G	GRCh37
NC_000001.9:g.243093918C>G	NCBI36
NG_042184.1:g.5533G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.315G>C	ENSP00000283179.10:p.Glu105Asp
ENST00000444376.7:c.315G>C	ENSP00000393151.2:p.Glu105Asp
ENST00000476241.2:n.500G>C
ENST00000638475.1:c.99G>C	ENSP00000491305.1:p.Glu33Asp
ENST00000638952.1:n.546G>C
ENST00000640218.2:c.315G>C MANE Select	ENSP00000491215.1:p.Glu105Asp
ENST00000640306.1:c.315G>C	ENSP00000491685.1:p.Glu105Asp
ENST00000640440.1:c.15G>C	ENSP00000491263.1:p.Glu5Asp
ENST00000649899.1:n.539G>C
ENST00000283179.13:c.315G>C	ENSP00000283179.9:p.Glu105Asp
ENST00000444376.6:c.315G>C	ENSP00000393151.2:p.Glu105Asp
ENST00000476241.1:n.499G>C
NM_004501.3:c.315G>C	NP_004492.2:p.Glu105Asp
NM_031844.2:c.315G>C	NP_114032.2:p.Glu105Asp
NM_031844.3:c.315G>C MANE Select	NP_114032.2:p.Glu105Asp