Canonical Allele Identifier: CA424403308
Gene: HNRNPU HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.245027229G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244863927G>C , CM000663.2:g.244863927G>C GRCh38
NC_000001.10:g.245027229G>C , CM000663.1:g.245027229G>C GRCh37
NC_000001.9:g.243093852G>C NCBI36
NG_042184.1:g.5599C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704074.1:c.59C>G
ENST00000283179.14:c.381C>G ENSP00000283179.10:p.Ala127=
ENST00000444376.7:c.381C>G ENSP00000393151.2:p.Ala127=
ENST00000476241.2:n.566C>G
ENST00000638475.1:c.165C>G ENSP00000491305.1:p.Ala55=
ENST00000638952.1:n.612C>G
ENST00000640218.2:c.381C>G MANE Select ENSP00000491215.1:p.Ala127=
ENST00000640306.1:c.381C>G ENSP00000491685.1:p.Ala127=
ENST00000640440.1:c.81C>G ENSP00000491263.1:p.Ala27=
ENST00000649899.1:n.605C>G
ENST00000283179.13:c.381C>G ENSP00000283179.9:p.Ala127=
ENST00000444376.6:c.381C>G ENSP00000393151.2:p.Ala127=
ENST00000476241.1:n.565C>G
NM_004501.3:c.381C>G NP_004492.2:p.Ala127=
NM_031844.2:c.381C>G NP_114032.2:p.Ala127=
NM_031844.3:c.381C>G MANE Select NP_114032.2:p.Ala127=