Canonical Allele Identifier: CA345497236

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1428436177
• gnomAD v2: 1-245027222-C-T
• gnomAD v4: 1-244863920-C-T
• MyVariant Identifiers: chr1:g.245027222C>T (hg19) ; chr1:g.244863920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863920C>T , CM000663.2:g.244863920C>T	GRCh38
NC_000001.10:g.245027222C>T , CM000663.1:g.245027222C>T	GRCh37
NC_000001.9:g.243093845C>T	NCBI36
NG_042184.1:g.5606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.66G>A
ENST00000283179.14:c.388G>A	ENSP00000283179.10:p.Asp130Asn
ENST00000444376.7:c.388G>A	ENSP00000393151.2:p.Asp130Asn
ENST00000476241.2:n.573G>A
ENST00000638475.1:c.172G>A	ENSP00000491305.1:p.Asp58Asn
ENST00000638952.1:n.619G>A
ENST00000640218.2:c.388G>A MANE Select	ENSP00000491215.1:p.Asp130Asn
ENST00000640306.1:c.388G>A	ENSP00000491685.1:p.Asp130Asn
ENST00000640440.1:c.88G>A	ENSP00000491263.1:p.Asp30Asn
ENST00000649899.1:n.612G>A
ENST00000283179.13:c.388G>A	ENSP00000283179.9:p.Asp130Asn
ENST00000444376.6:c.388G>A	ENSP00000393151.2:p.Asp130Asn
ENST00000476241.1:n.572G>A
NM_004501.3:c.388G>A	NP_004492.2:p.Asp130Asn
NM_031844.2:c.388G>A	NP_114032.2:p.Asp130Asn
NM_031844.3:c.388G>A MANE Select	NP_114032.2:p.Asp130Asn