Canonical Allele Identifier: CA424403438

Gene: HNRNPU

Linked Data

• gnomAD v4: 1-244863960-G-A
• MyVariant Identifiers: chr1:g.245027262G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863960G>A , CM000663.2:g.244863960G>A	GRCh38
NC_000001.10:g.245027262G>A , CM000663.1:g.245027262G>A	GRCh37
NC_000001.9:g.243093885G>A	NCBI36
NG_042184.1:g.5566C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.26C>T
ENST00000283179.14:c.348C>T	ENSP00000283179.10:p.Ala116=
ENST00000444376.7:c.348C>T	ENSP00000393151.2:p.Ala116=
ENST00000476241.2:n.533C>T
ENST00000638475.1:c.132C>T	ENSP00000491305.1:p.Ala44=
ENST00000638952.1:n.579C>T
ENST00000640218.2:c.348C>T MANE Select	ENSP00000491215.1:p.Ala116=
ENST00000640306.1:c.348C>T	ENSP00000491685.1:p.Ala116=
ENST00000640440.1:c.48C>T	ENSP00000491263.1:p.Ala16=
ENST00000649899.1:n.572C>T
ENST00000283179.13:c.348C>T	ENSP00000283179.9:p.Ala116=
ENST00000444376.6:c.348C>T	ENSP00000393151.2:p.Ala116=
ENST00000476241.1:n.532C>T
NM_004501.3:c.348C>T	NP_004492.2:p.Ala116=
NM_031844.2:c.348C>T	NP_114032.2:p.Ala116=
NM_031844.3:c.348C>T MANE Select	NP_114032.2:p.Ala116=