Canonical Allele Identifier: CA345497456

Gene: HNRNPU

Linked Data

• gnomAD v4: 1-244864021-A-G
• MyVariant Identifiers: chr1:g.245027323A>G (hg19) ; chr1:g.244864021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864021A>G , CM000663.2:g.244864021A>G	GRCh38
NC_000001.10:g.245027323A>G , CM000663.1:g.245027323A>G	GRCh37
NC_000001.9:g.243093946A>G	NCBI36
NG_042184.1:g.5505T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.287T>C	ENSP00000283179.10:p.Ile96Thr
ENST00000444376.7:c.287T>C	ENSP00000393151.2:p.Ile96Thr
ENST00000476241.2:n.472T>C
ENST00000638475.1:c.71T>C	ENSP00000491305.1:p.Ile24Thr
ENST00000638952.1:n.518T>C
ENST00000640218.2:c.287T>C MANE Select	ENSP00000491215.1:p.Ile96Thr
ENST00000640306.1:c.287T>C	ENSP00000491685.1:p.Ile96Thr
ENST00000649899.1:n.511T>C
ENST00000283179.13:c.287T>C	ENSP00000283179.9:p.Ile96Thr
ENST00000444376.6:c.287T>C	ENSP00000393151.2:p.Ile96Thr
ENST00000476241.1:n.471T>C
NM_004501.3:c.287T>C	NP_004492.2:p.Ile96Thr
NM_031844.2:c.287T>C	NP_114032.2:p.Ile96Thr
NM_031844.3:c.287T>C MANE Select	NP_114032.2:p.Ile96Thr