Canonical Allele Identifier: CA345496558

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1680922008
• gnomAD v4: 1-244863750-C-A
• MyVariant Identifiers: chr1:g.245027052C>A (hg19) ; chr1:g.244863750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863750C>A , CM000663.2:g.244863750C>A	GRCh38
NC_000001.10:g.245027052C>A , CM000663.1:g.245027052C>A	GRCh37
NC_000001.9:g.243093675C>A	NCBI36
NG_042184.1:g.5776G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.236G>T
ENST00000283179.14:c.558G>T	ENSP00000283179.10:p.Lys186Asn
ENST00000444376.7:c.558G>T	ENSP00000393151.2:p.Lys186Asn
ENST00000476241.2:n.743G>T
ENST00000638475.1:c.342G>T	ENSP00000491305.1:p.Lys114Asn
ENST00000638952.1:n.789G>T
ENST00000640218.2:c.558G>T MANE Select	ENSP00000491215.1:p.Lys186Asn
ENST00000640306.1:c.558G>T	ENSP00000491685.1:p.Lys186Asn
ENST00000640440.1:c.258G>T	ENSP00000491263.1:p.Lys86Asn
ENST00000649899.1:n.782G>T
ENST00000283179.13:c.558G>T	ENSP00000283179.9:p.Lys186Asn
ENST00000444376.6:c.558G>T	ENSP00000393151.2:p.Lys186Asn
ENST00000476241.1:n.742G>T
NM_004501.3:c.558G>T	NP_004492.2:p.Lys186Asn
NM_031844.2:c.558G>T	NP_114032.2:p.Lys186Asn
NM_031844.3:c.558G>T MANE Select	NP_114032.2:p.Lys186Asn