Canonical Allele Identifier: CA345497240

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1809816
• ClinVar RCV Id: RCV002508372
• dbSNP Id: rs1435707336
• gnomAD v3: 1-244863922-T-C
• gnomAD v4: 1-244863922-T-C
• MyVariant Identifiers: chr1:g.245027224T>C (hg19) ; chr1:g.244863922T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863922T>C , CM000663.2:g.244863922T>C	GRCh38
NC_000001.10:g.245027224T>C , CM000663.1:g.245027224T>C	GRCh37
NC_000001.9:g.243093847T>C	NCBI36
NG_042184.1:g.5604A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.64A>G
ENST00000283179.14:c.386A>G	ENSP00000283179.10:p.Glu129Gly
ENST00000444376.7:c.386A>G	ENSP00000393151.2:p.Glu129Gly
ENST00000476241.2:n.571A>G
ENST00000638475.1:c.170A>G	ENSP00000491305.1:p.Glu57Gly
ENST00000638952.1:n.617A>G
ENST00000640218.2:c.386A>G MANE Select	ENSP00000491215.1:p.Glu129Gly
ENST00000640306.1:c.386A>G	ENSP00000491685.1:p.Glu129Gly
ENST00000640440.1:c.86A>G	ENSP00000491263.1:p.Glu29Gly
ENST00000649899.1:n.610A>G
ENST00000283179.13:c.386A>G	ENSP00000283179.9:p.Glu129Gly
ENST00000444376.6:c.386A>G	ENSP00000393151.2:p.Glu129Gly
ENST00000476241.1:n.570A>G
NM_004501.3:c.386A>G	NP_004492.2:p.Glu129Gly
NM_031844.2:c.386A>G	NP_114032.2:p.Glu129Gly
NM_031844.3:c.386A>G MANE Select	NP_114032.2:p.Glu129Gly