Canonical Allele Identifier: CA345496145

Gene: HNRNPU

Linked Data

• gnomAD v4: 1-244863657-T-A
• MyVariant Identifiers: chr1:g.245026959T>A (hg19) ; chr1:g.244863657T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863657T>A , CM000663.2:g.244863657T>A	GRCh38
NC_000001.10:g.245026959T>A , CM000663.1:g.245026959T>A	GRCh37
NC_000001.9:g.243093582T>A	NCBI36
NG_042184.1:g.5869A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.312+17A>T
ENST00000283179.14:c.634+17A>T	ENSP00000283179.10:n.634+17A>T
ENST00000444376.7:c.634+17A>T	ENSP00000393151.2:n.634+17A>T
ENST00000476241.2:n.819+17A>T
ENST00000638475.1:c.418+17A>T	ENSP00000491305.1:n.418+17A>T
ENST00000638952.1:n.882A>T
ENST00000640218.2:c.651A>T MANE Select	ENSP00000491215.1:p.Glu217Asp
ENST00000640306.1:c.634+17A>T	ENSP00000491685.1:n.634+17A>T
ENST00000640440.1:c.334+17A>T	ENSP00000491263.1:n.334+17A>T
ENST00000649899.1:n.858+17A>T
ENST00000283179.13:c.651A>T	ENSP00000283179.9:p.Glu217Asp
ENST00000444376.6:c.634+17A>T	ENSP00000393151.2:n.634+17A>T
ENST00000476241.1:n.818+17A>T
NM_004501.3:c.634+17A>T	NP_004492.2:n.634+17A>T
NM_031844.2:c.651A>T	NP_114032.2:p.Glu217Asp
NM_031844.3:c.651A>T MANE Select	NP_114032.2:p.Glu217Asp