Canonical Allele Identifier: CA345497050

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2742406
• ClinVar RCV Id: RCV003591268
• MyVariant Identifiers: chr1:g.245027160T>G (hg19) ; chr1:g.244863858T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863858T>G , CM000663.2:g.244863858T>G	GRCh38
NC_000001.10:g.245027160T>G , CM000663.1:g.245027160T>G	GRCh37
NC_000001.9:g.243093783T>G	NCBI36
NG_042184.1:g.5668A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.128A>C
ENST00000283179.14:c.450A>C	ENSP00000283179.10:p.Glu150Asp
ENST00000444376.7:c.450A>C	ENSP00000393151.2:p.Glu150Asp
ENST00000476241.2:n.635A>C
ENST00000638475.1:c.234A>C	ENSP00000491305.1:p.Glu78Asp
ENST00000638952.1:n.681A>C
ENST00000640218.2:c.450A>C MANE Select	ENSP00000491215.1:p.Glu150Asp
ENST00000640306.1:c.450A>C	ENSP00000491685.1:p.Glu150Asp
ENST00000640440.1:c.150A>C	ENSP00000491263.1:p.Glu50Asp
ENST00000649899.1:n.674A>C
ENST00000283179.13:c.450A>C	ENSP00000283179.9:p.Glu150Asp
ENST00000444376.6:c.450A>C	ENSP00000393151.2:p.Glu150Asp
ENST00000476241.1:n.634A>C
NM_004501.3:c.450A>C	NP_004492.2:p.Glu150Asp
NM_031844.2:c.450A>C	NP_114032.2:p.Glu150Asp
NM_031844.3:c.450A>C MANE Select	NP_114032.2:p.Glu150Asp