Canonical Allele Identifier: CA40505032

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 998712
• ClinVar RCV Id: RCV002538439
• dbSNP Id: rs985639804
• gnomAD v2: 1-245027009-G-A
• gnomAD v3: 1-244863707-G-A
• gnomAD v4: 1-244863707-G-A
• MyVariant Identifiers: chr1:g.245027009G>A (hg19) ; chr1:g.244863707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863707G>A , CM000663.2:g.244863707G>A	GRCh38
NC_000001.10:g.245027009G>A , CM000663.1:g.245027009G>A	GRCh37
NC_000001.9:g.243093632G>A	NCBI36
NG_042184.1:g.5819C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.279C>T
ENST00000283179.14:c.601C>T	ENSP00000283179.10:p.Pro201Ser
ENST00000444376.7:c.601C>T	ENSP00000393151.2:p.Pro201Ser
ENST00000476241.2:n.786C>T
ENST00000638475.1:c.385C>T	ENSP00000491305.1:p.Pro129Ser
ENST00000638952.1:n.832C>T
ENST00000640218.2:c.601C>T MANE Select	ENSP00000491215.1:p.Pro201Ser
ENST00000640306.1:c.601C>T	ENSP00000491685.1:p.Pro201Ser
ENST00000640440.1:c.301C>T	ENSP00000491263.1:p.Pro101Ser
ENST00000649899.1:n.825C>T
ENST00000283179.13:c.601C>T	ENSP00000283179.9:p.Pro201Ser
ENST00000444376.6:c.601C>T	ENSP00000393151.2:p.Pro201Ser
ENST00000476241.1:n.785C>T
NM_004501.3:c.601C>T	NP_004492.2:p.Pro201Ser
NM_031844.2:c.601C>T	NP_114032.2:p.Pro201Ser
NM_031844.3:c.601C>T MANE Select	NP_114032.2:p.Pro201Ser