Canonical Allele Identifier: CA1486818

Gene: HNRNPU

Linked Data

• dbSNP Id: rs554568535
• ExAC: 1:245027258 A / G
• gnomAD v2: 1-245027258-A-G
• gnomAD v3: 1-244863956-A-G
• gnomAD v4: 1-244863956-A-G
• MyVariant Identifiers: chr1:g.245027258A>G (hg19) ; chr1:g.244863956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863956A>G , CM000663.2:g.244863956A>G	GRCh38
NC_000001.10:g.245027258A>G , CM000663.1:g.245027258A>G	GRCh37
NC_000001.9:g.243093881A>G	NCBI36
NG_042184.1:g.5570T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.30T>C
ENST00000283179.14:c.352T>C	ENSP00000283179.10:p.Ser118Pro
ENST00000444376.7:c.352T>C	ENSP00000393151.2:p.Ser118Pro
ENST00000476241.2:n.537T>C
ENST00000638475.1:c.136T>C	ENSP00000491305.1:p.Ser46Pro
ENST00000638952.1:n.583T>C
ENST00000640218.2:c.352T>C MANE Select	ENSP00000491215.1:p.Ser118Pro
ENST00000640306.1:c.352T>C	ENSP00000491685.1:p.Ser118Pro
ENST00000640440.1:c.52T>C	ENSP00000491263.1:p.Ser18Pro
ENST00000649899.1:n.576T>C
ENST00000283179.13:c.352T>C	ENSP00000283179.9:p.Ser118Pro
ENST00000444376.6:c.352T>C	ENSP00000393151.2:p.Ser118Pro
ENST00000476241.1:n.536T>C
NM_004501.3:c.352T>C	NP_004492.2:p.Ser118Pro
NM_031844.2:c.352T>C	NP_114032.2:p.Ser118Pro
NM_031844.3:c.352T>C MANE Select	NP_114032.2:p.Ser118Pro