Canonical Allele Identifier: CA345496846

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1680924718
• gnomAD v4: 1-244863815-G-A
• MyVariant Identifiers: chr1:g.245027117G>A (hg19) ; chr1:g.244863815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863815G>A , CM000663.2:g.244863815G>A	GRCh38
NC_000001.10:g.245027117G>A , CM000663.1:g.245027117G>A	GRCh37
NC_000001.9:g.243093740G>A	NCBI36
NG_042184.1:g.5711C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.171C>T
ENST00000283179.14:c.493C>T	ENSP00000283179.10:p.Pro165Ser
ENST00000444376.7:c.493C>T	ENSP00000393151.2:p.Pro165Ser
ENST00000476241.2:n.678C>T
ENST00000638475.1:c.277C>T	ENSP00000491305.1:p.Pro93Ser
ENST00000638952.1:n.724C>T
ENST00000640218.2:c.493C>T MANE Select	ENSP00000491215.1:p.Pro165Ser
ENST00000640306.1:c.493C>T	ENSP00000491685.1:p.Pro165Ser
ENST00000640440.1:c.193C>T	ENSP00000491263.1:p.Pro65Ser
ENST00000649899.1:n.717C>T
ENST00000283179.13:c.493C>T	ENSP00000283179.9:p.Pro165Ser
ENST00000444376.6:c.493C>T	ENSP00000393151.2:p.Pro165Ser
ENST00000476241.1:n.677C>T
NM_004501.3:c.493C>T	NP_004492.2:p.Pro165Ser
NM_031844.2:c.493C>T	NP_114032.2:p.Pro165Ser
NM_031844.3:c.493C>T MANE Select	NP_114032.2:p.Pro165Ser