Canonical Allele Identifier: CA345497448

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1479183749
• gnomAD v2: 1-245027320-G-C
• gnomAD v4: 1-244864018-G-C
• MyVariant Identifiers: chr1:g.245027320G>C (hg19) ; chr1:g.244864018G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864018G>C , CM000663.2:g.244864018G>C	GRCh38
NC_000001.10:g.245027320G>C , CM000663.1:g.245027320G>C	GRCh37
NC_000001.9:g.243093943G>C	NCBI36
NG_042184.1:g.5508C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.290C>G	ENSP00000283179.10:p.Ser97Cys
ENST00000444376.7:c.290C>G	ENSP00000393151.2:p.Ser97Cys
ENST00000476241.2:n.475C>G
ENST00000638475.1:c.74C>G	ENSP00000491305.1:p.Ser25Cys
ENST00000638952.1:n.521C>G
ENST00000640218.2:c.290C>G MANE Select	ENSP00000491215.1:p.Ser97Cys
ENST00000640306.1:c.290C>G	ENSP00000491685.1:p.Ser97Cys
ENST00000649899.1:n.514C>G
ENST00000283179.13:c.290C>G	ENSP00000283179.9:p.Ser97Cys
ENST00000444376.6:c.290C>G	ENSP00000393151.2:p.Ser97Cys
ENST00000476241.1:n.474C>G
NM_004501.3:c.290C>G	NP_004492.2:p.Ser97Cys
NM_031844.2:c.290C>G	NP_114032.2:p.Ser97Cys
NM_031844.3:c.290C>G MANE Select	NP_114032.2:p.Ser97Cys