Canonical Allele Identifier: CA345497305

Gene: HNRNPU

Linked Data

• gnomAD v4: 1-244863950-G-T
• MyVariant Identifiers: chr1:g.245027252G>T (hg19) ; chr1:g.244863950G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863950G>T , CM000663.2:g.244863950G>T	GRCh38
NC_000001.10:g.245027252G>T , CM000663.1:g.245027252G>T	GRCh37
NC_000001.9:g.243093875G>T	NCBI36
NG_042184.1:g.5576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.36C>A
ENST00000283179.14:c.358C>A	ENSP00000283179.10:p.Pro120Thr
ENST00000444376.7:c.358C>A	ENSP00000393151.2:p.Pro120Thr
ENST00000476241.2:n.543C>A
ENST00000638475.1:c.142C>A	ENSP00000491305.1:p.Pro48Thr
ENST00000638952.1:n.589C>A
ENST00000640218.2:c.358C>A MANE Select	ENSP00000491215.1:p.Pro120Thr
ENST00000640306.1:c.358C>A	ENSP00000491685.1:p.Pro120Thr
ENST00000640440.1:c.58C>A	ENSP00000491263.1:p.Pro20Thr
ENST00000649899.1:n.582C>A
ENST00000283179.13:c.358C>A	ENSP00000283179.9:p.Pro120Thr
ENST00000444376.6:c.358C>A	ENSP00000393151.2:p.Pro120Thr
ENST00000476241.1:n.542C>A
NM_004501.3:c.358C>A	NP_004492.2:p.Pro120Thr
NM_031844.2:c.358C>A	NP_114032.2:p.Pro120Thr
NM_031844.3:c.358C>A MANE Select	NP_114032.2:p.Pro120Thr