Canonical Allele Identifier: CA424402534

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1204338667
• gnomAD v2: 1-245027001-C-G
• gnomAD v4: 1-244863699-C-G
• MyVariant Identifiers: chr1:g.245027001C>G (hg19) ; chr1:g.244863699C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863699C>G , CM000663.2:g.244863699C>G	GRCh38
NC_000001.10:g.245027001C>G , CM000663.1:g.245027001C>G	GRCh37
NC_000001.9:g.243093624C>G	NCBI36
NG_042184.1:g.5827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.287G>C
ENST00000283179.14:c.609G>C	ENSP00000283179.10:p.Ala203=
ENST00000444376.7:c.609G>C	ENSP00000393151.2:p.Ala203=
ENST00000476241.2:n.794G>C
ENST00000638475.1:c.393G>C	ENSP00000491305.1:p.Ala131=
ENST00000638952.1:n.840G>C
ENST00000640218.2:c.609G>C MANE Select	ENSP00000491215.1:p.Ala203=
ENST00000640306.1:c.609G>C	ENSP00000491685.1:p.Ala203=
ENST00000640440.1:c.309G>C	ENSP00000491263.1:p.Ala103=
ENST00000649899.1:n.833G>C
ENST00000283179.13:c.609G>C	ENSP00000283179.9:p.Ala203=
ENST00000444376.6:c.609G>C	ENSP00000393151.2:p.Ala203=
ENST00000476241.1:n.793G>C
NM_004501.3:c.609G>C	NP_004492.2:p.Ala203=
NM_031844.2:c.609G>C	NP_114032.2:p.Ala203=
NM_031844.3:c.609G>C MANE Select	NP_114032.2:p.Ala203=