Canonical Allele Identifier: CA1486789

Gene: HNRNPU

Linked Data

• dbSNP Id: rs775100241
• ExAC: 1:245027110 G / A
• gnomAD v2: 1-245027110-G-A
• gnomAD v4: 1-244863808-G-A
• MyVariant Identifiers: chr1:g.245027110G>A (hg19) ; chr1:g.244863808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863808G>A , CM000663.2:g.244863808G>A	GRCh38
NC_000001.10:g.245027110G>A , CM000663.1:g.245027110G>A	GRCh37
NC_000001.9:g.243093733G>A	NCBI36
NG_042184.1:g.5718C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.178C>T
ENST00000283179.14:c.500C>T	ENSP00000283179.10:p.Ala167Val
ENST00000444376.7:c.500C>T	ENSP00000393151.2:p.Ala167Val
ENST00000476241.2:n.685C>T
ENST00000638475.1:c.284C>T	ENSP00000491305.1:p.Ala95Val
ENST00000638952.1:n.731C>T
ENST00000640218.2:c.500C>T MANE Select	ENSP00000491215.1:p.Ala167Val
ENST00000640306.1:c.500C>T	ENSP00000491685.1:p.Ala167Val
ENST00000640440.1:c.200C>T	ENSP00000491263.1:p.Ala67Val
ENST00000649899.1:n.724C>T
ENST00000283179.13:c.500C>T	ENSP00000283179.9:p.Ala167Val
ENST00000444376.6:c.500C>T	ENSP00000393151.2:p.Ala167Val
ENST00000476241.1:n.684C>T
NM_004501.3:c.500C>T	NP_004492.2:p.Ala167Val
NM_031844.2:c.500C>T	NP_114032.2:p.Ala167Val
NM_031844.3:c.500C>T MANE Select	NP_114032.2:p.Ala167Val