Canonical Allele Identifier: CA424403461
Gene: HNRNPU HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.245027271C>G (hg19)

Genomic Alleles

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

Transcript Alleles

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