Canonical Allele Identifier: CA345497486

Gene: HNRNPU

Linked Data

• gnomAD v4: 1-244864033-T-G
• MyVariant Identifiers: chr1:g.245027335T>G (hg19) ; chr1:g.244864033T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864033T>G , CM000663.2:g.244864033T>G	GRCh38
NC_000001.10:g.245027335T>G , CM000663.1:g.245027335T>G	GRCh37
NC_000001.9:g.243093958T>G	NCBI36
NG_042184.1:g.5493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.275A>C	ENSP00000283179.10:p.Glu92Ala
ENST00000444376.7:c.275A>C	ENSP00000393151.2:p.Glu92Ala
ENST00000476241.2:n.460A>C
ENST00000638475.1:c.59A>C	ENSP00000491305.1:p.Glu20Ala
ENST00000638952.1:n.506A>C
ENST00000640218.2:c.275A>C MANE Select	ENSP00000491215.1:p.Glu92Ala
ENST00000640306.1:c.275A>C	ENSP00000491685.1:p.Glu92Ala
ENST00000649899.1:n.499A>C
ENST00000283179.13:c.275A>C	ENSP00000283179.9:p.Glu92Ala
ENST00000444376.6:c.275A>C	ENSP00000393151.2:p.Glu92Ala
ENST00000476241.1:n.459A>C
NM_004501.3:c.275A>C	NP_004492.2:p.Glu92Ala
NM_031844.2:c.275A>C	NP_114032.2:p.Glu92Ala
NM_031844.3:c.275A>C MANE Select	NP_114032.2:p.Glu92Ala