Canonical Allele Identifier: CA345497244

Gene: HNRNPU

Linked Data

• MyVariant Identifiers: chr1:g.245027225C>G (hg19) ; chr1:g.244863923C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863923C>G , CM000663.2:g.244863923C>G	GRCh38
NC_000001.10:g.245027225C>G , CM000663.1:g.245027225C>G	GRCh37
NC_000001.9:g.243093848C>G	NCBI36
NG_042184.1:g.5603G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.63G>C
ENST00000283179.14:c.385G>C	ENSP00000283179.10:p.Glu129Gln
ENST00000444376.7:c.385G>C	ENSP00000393151.2:p.Glu129Gln
ENST00000476241.2:n.570G>C
ENST00000638475.1:c.169G>C	ENSP00000491305.1:p.Glu57Gln
ENST00000638952.1:n.616G>C
ENST00000640218.2:c.385G>C MANE Select	ENSP00000491215.1:p.Glu129Gln
ENST00000640306.1:c.385G>C	ENSP00000491685.1:p.Glu129Gln
ENST00000640440.1:c.85G>C	ENSP00000491263.1:p.Glu29Gln
ENST00000649899.1:n.609G>C
ENST00000283179.13:c.385G>C	ENSP00000283179.9:p.Glu129Gln
ENST00000444376.6:c.385G>C	ENSP00000393151.2:p.Glu129Gln
ENST00000476241.1:n.569G>C
NM_004501.3:c.385G>C	NP_004492.2:p.Glu129Gln
NM_031844.2:c.385G>C	NP_114032.2:p.Glu129Gln
NM_031844.3:c.385G>C MANE Select	NP_114032.2:p.Glu129Gln