Canonical Allele Identifier: CA424402636

Gene: HNRNPU

Linked Data

• gnomAD v4: 1-244863795-T-C
• MyVariant Identifiers: chr1:g.245027097T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863795T>C , CM000663.2:g.244863795T>C	GRCh38
NC_000001.10:g.245027097T>C , CM000663.1:g.245027097T>C	GRCh37
NC_000001.9:g.243093720T>C	NCBI36
NG_042184.1:g.5731A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.191A>G
ENST00000283179.14:c.513A>G	ENSP00000283179.10:p.Gln171=
ENST00000444376.7:c.513A>G	ENSP00000393151.2:p.Gln171=
ENST00000476241.2:n.698A>G
ENST00000638475.1:c.297A>G	ENSP00000491305.1:p.Gln99=
ENST00000638952.1:n.744A>G
ENST00000640218.2:c.513A>G MANE Select	ENSP00000491215.1:p.Gln171=
ENST00000640306.1:c.513A>G	ENSP00000491685.1:p.Gln171=
ENST00000640440.1:c.213A>G	ENSP00000491263.1:p.Gln71=
ENST00000649899.1:n.737A>G
ENST00000283179.13:c.513A>G	ENSP00000283179.9:p.Gln171=
ENST00000444376.6:c.513A>G	ENSP00000393151.2:p.Gln171=
ENST00000476241.1:n.697A>G
NM_004501.3:c.513A>G	NP_004492.2:p.Gln171=
NM_031844.2:c.513A>G	NP_114032.2:p.Gln171=
NM_031844.3:c.513A>G MANE Select	NP_114032.2:p.Gln171=