Canonical Allele Identifier: CA345497348

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1680930008
• gnomAD v4: 1-244863973-G-T
• MyVariant Identifiers: chr1:g.245027275G>T (hg19) ; chr1:g.244863973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863973G>T , CM000663.2:g.244863973G>T	GRCh38
NC_000001.10:g.245027275G>T , CM000663.1:g.245027275G>T	GRCh37
NC_000001.9:g.243093898G>T	NCBI36
NG_042184.1:g.5553C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.13C>A
ENST00000283179.14:c.335C>A	ENSP00000283179.10:p.Ala112Asp
ENST00000444376.7:c.335C>A	ENSP00000393151.2:p.Ala112Asp
ENST00000476241.2:n.520C>A
ENST00000638475.1:c.119C>A	ENSP00000491305.1:p.Ala40Asp
ENST00000638952.1:n.566C>A
ENST00000640218.2:c.335C>A MANE Select	ENSP00000491215.1:p.Ala112Asp
ENST00000640306.1:c.335C>A	ENSP00000491685.1:p.Ala112Asp
ENST00000640440.1:c.35C>A	ENSP00000491263.1:p.Ala12Asp
ENST00000649899.1:n.559C>A
ENST00000283179.13:c.335C>A	ENSP00000283179.9:p.Ala112Asp
ENST00000444376.6:c.335C>A	ENSP00000393151.2:p.Ala112Asp
ENST00000476241.1:n.519C>A
NM_004501.3:c.335C>A	NP_004492.2:p.Ala112Asp
NM_031844.2:c.335C>A	NP_114032.2:p.Ala112Asp
NM_031844.3:c.335C>A MANE Select	NP_114032.2:p.Ala112Asp