Canonical Allele Identifier: CA345497403

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1259318393
• gnomAD v2: 1-245027299-A-T
• gnomAD v4: 1-244863997-A-T
• MyVariant Identifiers: chr1:g.245027299A>T (hg19) ; chr1:g.244863997A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863997A>T , CM000663.2:g.244863997A>T	GRCh38
NC_000001.10:g.245027299A>T , CM000663.1:g.245027299A>T	GRCh37
NC_000001.9:g.243093922A>T	NCBI36
NG_042184.1:g.5529T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.311T>A	ENSP00000283179.10:p.Met104Lys
ENST00000444376.7:c.311T>A	ENSP00000393151.2:p.Met104Lys
ENST00000476241.2:n.496T>A
ENST00000638475.1:c.95T>A	ENSP00000491305.1:p.Met32Lys
ENST00000638952.1:n.542T>A
ENST00000640218.2:c.311T>A MANE Select	ENSP00000491215.1:p.Met104Lys
ENST00000640306.1:c.311T>A	ENSP00000491685.1:p.Met104Lys
ENST00000640440.1:c.11T>A	ENSP00000491263.1:p.Met4Lys
ENST00000649899.1:n.535T>A
ENST00000283179.13:c.311T>A	ENSP00000283179.9:p.Met104Lys
ENST00000444376.6:c.311T>A	ENSP00000393151.2:p.Met104Lys
ENST00000476241.1:n.495T>A
NM_004501.3:c.311T>A	NP_004492.2:p.Met104Lys
NM_031844.2:c.311T>A	NP_114032.2:p.Met104Lys
NM_031844.3:c.311T>A MANE Select	NP_114032.2:p.Met104Lys