Canonical Allele Identifier: CA424403462
Gene: HNRNPU HGNC NCBI

Linked Data

dbSNP Id: rs1680929812
MyVariant Identifiers: chr1:g.245027271C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244863969C>T , CM000663.2:g.244863969C>T GRCh38
NC_000001.10:g.245027271C>T , CM000663.1:g.245027271C>T GRCh37
NC_000001.9:g.243093894C>T NCBI36
NG_042184.1:g.5557G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704074.1:c.17G>A
ENST00000283179.14:c.339G>A ENSP00000283179.10:p.Ala113=
ENST00000444376.7:c.339G>A ENSP00000393151.2:p.Ala113=
ENST00000476241.2:n.524G>A
ENST00000638475.1:c.123G>A ENSP00000491305.1:p.Ala41=
ENST00000638952.1:n.570G>A
ENST00000640218.2:c.339G>A MANE Select ENSP00000491215.1:p.Ala113=
ENST00000640306.1:c.339G>A ENSP00000491685.1:p.Ala113=
ENST00000640440.1:c.39G>A ENSP00000491263.1:p.Ala13=
ENST00000649899.1:n.563G>A
ENST00000283179.13:c.339G>A ENSP00000283179.9:p.Ala113=
ENST00000444376.6:c.339G>A ENSP00000393151.2:p.Ala113=
ENST00000476241.1:n.523G>A
NM_004501.3:c.339G>A NP_004492.2:p.Ala113=
NM_031844.2:c.339G>A NP_114032.2:p.Ala113=
NM_031844.3:c.339G>A MANE Select NP_114032.2:p.Ala113=