Canonical Allele Identifier: CA345496051

Gene: HNRNPU

Linked Data

• gnomAD v4: 1-244863637-C-G
• MyVariant Identifiers: chr1:g.245026939C>G (hg19) ; chr1:g.244863637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863637C>G , CM000663.2:g.244863637C>G	GRCh38
NC_000001.10:g.245026939C>G , CM000663.1:g.245026939C>G	GRCh37
NC_000001.9:g.243093562C>G	NCBI36
NG_042184.1:g.5889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.312+37G>C
ENST00000283179.14:c.634+37G>C	ENSP00000283179.10:n.634+37G>C
ENST00000444376.7:c.634+37G>C	ENSP00000393151.2:n.634+37G>C
ENST00000476241.2:n.819+37G>C
ENST00000638475.1:c.418+37G>C	ENSP00000491305.1:n.418+37G>C
ENST00000638952.1:n.902G>C
ENST00000640056.1:c.17G>C	ENSP00000492620.1:p.Arg6Pro
ENST00000640218.2:c.671G>C MANE Select	ENSP00000491215.1:p.Arg224Pro
ENST00000640306.1:c.634+37G>C	ENSP00000491685.1:n.634+37G>C
ENST00000640440.1:c.334+37G>C	ENSP00000491263.1:n.334+37G>C
ENST00000649899.1:n.858+37G>C
ENST00000283179.13:c.671G>C	ENSP00000283179.9:p.Arg224Pro
ENST00000444376.6:c.634+37G>C	ENSP00000393151.2:n.634+37G>C
ENST00000476241.1:n.818+37G>C
NM_004501.3:c.634+37G>C	NP_004492.2:n.634+37G>C
NM_031844.2:c.671G>C	NP_114032.2:p.Arg224Pro
NM_031844.3:c.671G>C MANE Select	NP_114032.2:p.Arg224Pro