Canonical Allele Identifier: CA1619384512

Linked Data

dbSNP Id: rs1773077486

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969824T>G , CM000668.2:g.31969824T>G GRCh38
NC_000006.11:g.31937601T>G , CM000668.1:g.31937601T>G GRCh37
NC_000006.10:g.32045580T>G NCBI36
NG_032652.1:g.16021T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.*53A>C (DXO) MANE Select ENSP00000337759.5:n.*53A>C
ENST00000337523.9:c.*53A>C (DXO) ENSP00000337759.5:n.*53A>C
ENST00000375349.7:c.*53A>C (DXO) ENSP00000364498.3:n.*53A>C
ENST00000473976.1:n.2016A>C (DXO)
ENST00000477826.5:n.2079A>C (DXO)
ENST00000478221.5:n.1125A>C (DXO)
ENST00000485557.5:n.1864A>C (DXO)
ENST00000491327.5:n.1381A>C (DXO)
ENST00000495340.5:c.577A>C (DXO)
NM_005510.3:c.*53A>C (DXO) NP_005501.2:n.*53A>C
XM_006715005.2:c.*53A>C (DXO) XP_006715068.1:n.*53A>C
XM_006715007.2:c.*53A>C (DXO) XP_006715070.1:n.*53A>C
XR_926081.1:n.1717A>C (DXO)
XR_926082.1:n.1744A>C (DXO)
XM_006715005.3:c.*53A>C (DXO) XP_006715068.1:n.*53A>C
XM_017010329.1:c.*53A>C (DXO) XP_016865818.1:n.*53A>C
XR_002956262.1:n.1476A>C (DXO)
XR_002956263.1:n.1642A>C (DXO)
XR_002956264.1:n.1542A>C (DXO)
XR_926082.2:n.1484A>C (DXO)
XR_926301.3:n.3866T>G (SKIC2)
NM_005510.4:c.*53A>C (DXO) MANE Select NP_005501.2:n.*53A>C
NM_001371205.1:c.*53A>C (DXO) NP_001358134.1:n.*53A>C
NM_001371206.1:c.*53A>C (DXO) NP_001358135.1:n.*53A>C