Canonical Allele Identifier: CA345496359

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2803024
• ClinVar RCV Id: RCV003757422
• dbSNP Id: rs773306715
• gnomAD v3: 1-244863701-C-G
• gnomAD v4: 1-244863701-C-G
• MyVariant Identifiers: chr1:g.245027003C>G (hg19) ; chr1:g.244863701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863701C>G , CM000663.2:g.244863701C>G	GRCh38
NC_000001.10:g.245027003C>G , CM000663.1:g.245027003C>G	GRCh37
NC_000001.9:g.243093626C>G	NCBI36
NG_042184.1:g.5825G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.285G>C
ENST00000283179.14:c.607G>C	ENSP00000283179.10:p.Ala203Pro
ENST00000444376.7:c.607G>C	ENSP00000393151.2:p.Ala203Pro
ENST00000476241.2:n.792G>C
ENST00000638475.1:c.391G>C	ENSP00000491305.1:p.Ala131Pro
ENST00000638952.1:n.838G>C
ENST00000640218.2:c.607G>C MANE Select	ENSP00000491215.1:p.Ala203Pro
ENST00000640306.1:c.607G>C	ENSP00000491685.1:p.Ala203Pro
ENST00000640440.1:c.307G>C	ENSP00000491263.1:p.Ala103Pro
ENST00000649899.1:n.831G>C
ENST00000283179.13:c.607G>C	ENSP00000283179.9:p.Ala203Pro
ENST00000444376.6:c.607G>C	ENSP00000393151.2:p.Ala203Pro
ENST00000476241.1:n.791G>C
NM_004501.3:c.607G>C	NP_004492.2:p.Ala203Pro
NM_031844.2:c.607G>C	NP_114032.2:p.Ala203Pro
NM_031844.3:c.607G>C MANE Select	NP_114032.2:p.Ala203Pro