Canonical Allele Identifier: CA345497560

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1403182602
• gnomAD v4: 1-244864061-C-T
• MyVariant Identifiers: chr1:g.245027363C>T (hg19) ; chr1:g.244864061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864061C>T , CM000663.2:g.244864061C>T	GRCh38
NC_000001.10:g.245027363C>T , CM000663.1:g.245027363C>T	GRCh37
NC_000001.9:g.243093986C>T	NCBI36
NG_042184.1:g.5465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.247G>A	ENSP00000283179.10:p.Asp83Asn
ENST00000444376.7:c.247G>A	ENSP00000393151.2:p.Asp83Asn
ENST00000476241.2:n.432G>A
ENST00000638475.1:c.31G>A	ENSP00000491305.1:p.Asp11Asn
ENST00000638952.1:n.478G>A
ENST00000640218.2:c.247G>A MANE Select	ENSP00000491215.1:p.Asp83Asn
ENST00000640306.1:c.247G>A	ENSP00000491685.1:p.Asp83Asn
ENST00000649899.1:n.471G>A
ENST00000283179.13:c.247G>A	ENSP00000283179.9:p.Asp83Asn
ENST00000444376.6:c.247G>A	ENSP00000393151.2:p.Asp83Asn
ENST00000476241.1:n.431G>A
NM_004501.3:c.247G>A	NP_004492.2:p.Asp83Asn
NM_031844.2:c.247G>A	NP_114032.2:p.Asp83Asn
NM_031844.3:c.247G>A MANE Select	NP_114032.2:p.Asp83Asn