Canonical Allele Identifier: CA144003

Gene: HNRNPU COX20

Linked Data

• ClinVar Variation Id: 55889
• ClinVar RCV Id: RCV000049300
• dbSNP Id: rs587777004
• MyVariant Identifiers: chr1:g.245005357A>C (hg19) ; chr1:g.244842055A>C (hg38)
• PubMed: PMID:23125284 ; PMID:24202787

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244842055A>C , CM000663.2:g.244842055A>C	GRCh38
NC_000001.10:g.245005357A>C , CM000663.1:g.245005357A>C	GRCh37
NC_000001.9:g.243071980A>C	NCBI36
NG_042825.1:g.11750A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366527.4:n.11435T>G (HNRNPU)
ENST00000411948.7:c.154A>C (COX20) MANE Select	ENSP00000406327.2:p.Thr52Pro
ENST00000475997.6:c.3873T>G (HNRNPU)	ENSP00000482621.2:n.3873T>G
ENST00000649899.1:n.11716T>G (HNRNPU)
ENST00000366528.3:c.190A>C (COX20)	ENSP00000355486.3:p.Thr64Pro
ENST00000391839.6:n.102-140A>C (COX20)
ENST00000411948.6:c.154A>C (COX20)	ENSP00000406327.2:p.Thr52Pro
ENST00000464757.1:n.2309A>C (COX20)
ENST00000498262.1:n.210A>C (COX20)
NM_001312871.1:c.154A>C (COX20)	NP_001299800.1:p.Thr52Pro
NM_001312872.1:c.190A>C (COX20)	NP_001299801.1:p.Thr64Pro
NM_001312873.1:c.23-140A>C (COX20)	NP_001299802.1:n.23-140A>C
NM_001312874.1:c.154A>C (COX20)	NP_001299803.1:p.Thr52Pro
NM_198076.4:c.154A>C (COX20)	NP_932342.1:p.Thr52Pro
NM_198076.5:c.154A>C (COX20)	NP_932342.1:p.Thr52Pro
NR_132419.1:n.282-140A>C (COX20)
NR_132420.1:n.373A>C (COX20)
NR_132421.1:n.262-144A>C (COX20)
NM_198076.6:c.154A>C (COX20) MANE Select	NP_932342.1:p.Thr52Pro