Canonical Allele Identifier: CA345497215

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1680927779
• gnomAD v4: 1-244863912-G-T
• MyVariant Identifiers: chr1:g.245027214G>T (hg19) ; chr1:g.244863912G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863912G>T , CM000663.2:g.244863912G>T	GRCh38
NC_000001.10:g.245027214G>T , CM000663.1:g.245027214G>T	GRCh37
NC_000001.9:g.243093837G>T	NCBI36
NG_042184.1:g.5614C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.74C>A
ENST00000283179.14:c.396C>A	ENSP00000283179.10:p.Asn132Lys
ENST00000444376.7:c.396C>A	ENSP00000393151.2:p.Asn132Lys
ENST00000476241.2:n.581C>A
ENST00000638475.1:c.180C>A	ENSP00000491305.1:p.Asn60Lys
ENST00000638952.1:n.627C>A
ENST00000640218.2:c.396C>A MANE Select	ENSP00000491215.1:p.Asn132Lys
ENST00000640306.1:c.396C>A	ENSP00000491685.1:p.Asn132Lys
ENST00000640440.1:c.96C>A	ENSP00000491263.1:p.Asn32Lys
ENST00000649899.1:n.620C>A
ENST00000283179.13:c.396C>A	ENSP00000283179.9:p.Asn132Lys
ENST00000444376.6:c.396C>A	ENSP00000393151.2:p.Asn132Lys
ENST00000476241.1:n.580C>A
NM_004501.3:c.396C>A	NP_004492.2:p.Asn132Lys
NM_031844.2:c.396C>A	NP_114032.2:p.Asn132Lys
NM_031844.3:c.396C>A MANE Select	NP_114032.2:p.Asn132Lys