Canonical Allele Identifier: CA345496793

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2812619
• ClinVar RCV Id: RCV003757474
• gnomAD v4: 1-244863802-T-A
• MyVariant Identifiers: chr1:g.245027104T>A (hg19) ; chr1:g.244863802T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863802T>A , CM000663.2:g.244863802T>A	GRCh38
NC_000001.10:g.245027104T>A , CM000663.1:g.245027104T>A	GRCh37
NC_000001.9:g.243093727T>A	NCBI36
NG_042184.1:g.5724A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.184A>T
ENST00000283179.14:c.506A>T	ENSP00000283179.10:p.Gln169Leu
ENST00000444376.7:c.506A>T	ENSP00000393151.2:p.Gln169Leu
ENST00000476241.2:n.691A>T
ENST00000638475.1:c.290A>T	ENSP00000491305.1:p.Gln97Leu
ENST00000638952.1:n.737A>T
ENST00000640218.2:c.506A>T MANE Select	ENSP00000491215.1:p.Gln169Leu
ENST00000640306.1:c.506A>T	ENSP00000491685.1:p.Gln169Leu
ENST00000640440.1:c.206A>T	ENSP00000491263.1:p.Gln69Leu
ENST00000649899.1:n.730A>T
ENST00000283179.13:c.506A>T	ENSP00000283179.9:p.Gln169Leu
ENST00000444376.6:c.506A>T	ENSP00000393151.2:p.Gln169Leu
ENST00000476241.1:n.690A>T
NM_004501.3:c.506A>T	NP_004492.2:p.Gln169Leu
NM_031844.2:c.506A>T	NP_114032.2:p.Gln169Leu
NM_031844.3:c.506A>T MANE Select	NP_114032.2:p.Gln169Leu