Canonical Allele Identifier: CA345496770

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1057524915
• gnomAD v4: 1-244863797-G-C
• MyVariant Identifiers: chr1:g.245027099G>C (hg19) ; chr1:g.244863797G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863797G>C , CM000663.2:g.244863797G>C	GRCh38
NC_000001.10:g.245027099G>C , CM000663.1:g.245027099G>C	GRCh37
NC_000001.9:g.243093722G>C	NCBI36
NG_042184.1:g.5729C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.189C>G
ENST00000283179.14:c.511C>G	ENSP00000283179.10:p.Gln171Glu
ENST00000444376.7:c.511C>G	ENSP00000393151.2:p.Gln171Glu
ENST00000476241.2:n.696C>G
ENST00000638475.1:c.295C>G	ENSP00000491305.1:p.Gln99Glu
ENST00000638952.1:n.742C>G
ENST00000640218.2:c.511C>G MANE Select	ENSP00000491215.1:p.Gln171Glu
ENST00000640306.1:c.511C>G	ENSP00000491685.1:p.Gln171Glu
ENST00000640440.1:c.211C>G	ENSP00000491263.1:p.Gln71Glu
ENST00000649899.1:n.735C>G
ENST00000283179.13:c.511C>G	ENSP00000283179.9:p.Gln171Glu
ENST00000444376.6:c.511C>G	ENSP00000393151.2:p.Gln171Glu
ENST00000476241.1:n.695C>G
NM_004501.3:c.511C>G	NP_004492.2:p.Gln171Glu
NM_031844.2:c.511C>G	NP_114032.2:p.Gln171Glu
NM_031844.3:c.511C>G MANE Select	NP_114032.2:p.Gln171Glu