Canonical Allele Identifier: CA424403432

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1680929508
• gnomAD v3: 1-244863957-G-A
• gnomAD v4: 1-244863957-G-A
• MyVariant Identifiers: chr1:g.245027259G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863957G>A , CM000663.2:g.244863957G>A	GRCh38
NC_000001.10:g.245027259G>A , CM000663.1:g.245027259G>A	GRCh37
NC_000001.9:g.243093882G>A	NCBI36
NG_042184.1:g.5569C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.29C>T
ENST00000283179.14:c.351C>T	ENSP00000283179.10:p.Asp117=
ENST00000444376.7:c.351C>T	ENSP00000393151.2:p.Asp117=
ENST00000476241.2:n.536C>T
ENST00000638475.1:c.135C>T	ENSP00000491305.1:p.Asp45=
ENST00000638952.1:n.582C>T
ENST00000640218.2:c.351C>T MANE Select	ENSP00000491215.1:p.Asp117=
ENST00000640306.1:c.351C>T	ENSP00000491685.1:p.Asp117=
ENST00000640440.1:c.51C>T	ENSP00000491263.1:p.Asp17=
ENST00000649899.1:n.575C>T
ENST00000283179.13:c.351C>T	ENSP00000283179.9:p.Asp117=
ENST00000444376.6:c.351C>T	ENSP00000393151.2:p.Asp117=
ENST00000476241.1:n.535C>T
NM_004501.3:c.351C>T	NP_004492.2:p.Asp117=
NM_031844.2:c.351C>T	NP_114032.2:p.Asp117=
NM_031844.3:c.351C>T MANE Select	NP_114032.2:p.Asp117=