Canonical Allele Identifier: CA16610079

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 406728
• ClinVar RCV Id: RCV002525546
• dbSNP Id: rs1553283951
• MyVariant Identifiers: chr1:g.245027303G>A (hg19) ; chr1:g.244864001G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864001G>A , CM000663.2:g.244864001G>A	GRCh38
NC_000001.10:g.245027303G>A , CM000663.1:g.245027303G>A	GRCh37
NC_000001.9:g.243093926G>A	NCBI36
NG_042184.1:g.5525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.307C>T	ENSP00000283179.10:p.Gln103Ter
ENST00000444376.7:c.307C>T	ENSP00000393151.2:p.Gln103Ter
ENST00000476241.2:n.492C>T
ENST00000638475.1:c.91C>T	ENSP00000491305.1:p.Gln31Ter
ENST00000638952.1:n.538C>T
ENST00000640218.2:c.307C>T MANE Select	ENSP00000491215.1:p.Gln103Ter
ENST00000640306.1:c.307C>T	ENSP00000491685.1:p.Gln103Ter
ENST00000640440.1:c.7C>T	ENSP00000491263.1:p.Gln3Ter
ENST00000649899.1:n.531C>T
ENST00000283179.13:c.307C>T	ENSP00000283179.9:p.Gln103Ter
ENST00000444376.6:c.307C>T	ENSP00000393151.2:p.Gln103Ter
ENST00000476241.1:n.491C>T
NM_004501.3:c.307C>T	NP_004492.2:p.Gln103Ter
NM_031844.2:c.307C>T	NP_114032.2:p.Gln103Ter
NM_031844.3:c.307C>T MANE Select	NP_114032.2:p.Gln103Ter