Canonical Allele Identifier: CA1486817

Gene: HNRNPU

Linked Data

• dbSNP Id: rs765877422
• ExAC: 1:245027256 C / A
• gnomAD v2: 1-245027256-C-A
• gnomAD v4: 1-244863954-C-A
• MyVariant Identifiers: chr1:g.245027256C>A (hg19) ; chr1:g.244863954C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863954C>A , CM000663.2:g.244863954C>A	GRCh38
NC_000001.10:g.245027256C>A , CM000663.1:g.245027256C>A	GRCh37
NC_000001.9:g.243093879C>A	NCBI36
NG_042184.1:g.5572G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.32G>T
ENST00000283179.14:c.354G>T	ENSP00000283179.10:p.Ser118=
ENST00000444376.7:c.354G>T	ENSP00000393151.2:p.Ser118=
ENST00000476241.2:n.539G>T
ENST00000638475.1:c.138G>T	ENSP00000491305.1:p.Ser46=
ENST00000638952.1:n.585G>T
ENST00000640218.2:c.354G>T MANE Select	ENSP00000491215.1:p.Ser118=
ENST00000640306.1:c.354G>T	ENSP00000491685.1:p.Ser118=
ENST00000640440.1:c.54G>T	ENSP00000491263.1:p.Ser18=
ENST00000649899.1:n.578G>T
ENST00000283179.13:c.354G>T	ENSP00000283179.9:p.Ser118=
ENST00000444376.6:c.354G>T	ENSP00000393151.2:p.Ser118=
ENST00000476241.1:n.538G>T
NM_004501.3:c.354G>T	NP_004492.2:p.Ser118=
NM_031844.2:c.354G>T	NP_114032.2:p.Ser118=
NM_031844.3:c.354G>T MANE Select	NP_114032.2:p.Ser118=