Canonical Allele Identifier: CA1619384519

Linked Data

dbSNP Id: rs1773078812

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969834T>C , CM000668.2:g.31969834T>C GRCh38
NC_000006.11:g.31937611T>C , CM000668.1:g.31937611T>C GRCh37
NC_000006.10:g.32045590T>C NCBI36
NG_032652.1:g.16031T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.*43A>G (DXO) MANE Select ENSP00000337759.5:n.*43A>G
ENST00000337523.9:c.*43A>G (DXO) ENSP00000337759.5:n.*43A>G
ENST00000375349.7:c.*43A>G (DXO) ENSP00000364498.3:n.*43A>G
ENST00000473976.1:n.2006A>G (DXO)
ENST00000477826.5:n.2069A>G (DXO)
ENST00000478221.5:n.1115A>G (DXO)
ENST00000485557.5:n.1854A>G (DXO)
ENST00000491327.5:n.1371A>G (DXO)
ENST00000495340.5:c.567A>G (DXO)
NM_005510.3:c.*43A>G (DXO) NP_005501.2:n.*43A>G
XM_006715005.2:c.*43A>G (DXO) XP_006715068.1:n.*43A>G
XM_006715007.2:c.*43A>G (DXO) XP_006715070.1:n.*43A>G
XR_926081.1:n.1707A>G (DXO)
XR_926082.1:n.1734A>G (DXO)
XM_006715005.3:c.*43A>G (DXO) XP_006715068.1:n.*43A>G
XM_017010329.1:c.*43A>G (DXO) XP_016865818.1:n.*43A>G
XR_002956262.1:n.1466A>G (DXO)
XR_002956263.1:n.1632A>G (DXO)
XR_002956264.1:n.1532A>G (DXO)
XR_926082.2:n.1474A>G (DXO)
XR_926301.3:n.3876T>C (SKIC2)
NM_005510.4:c.*43A>G (DXO) MANE Select NP_005501.2:n.*43A>G
NM_001371205.1:c.*43A>G (DXO) NP_001358134.1:n.*43A>G
NM_001371206.1:c.*43A>G (DXO) NP_001358135.1:n.*43A>G