Canonical Allele Identifier: CA1979317063

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65623846G>C , CM000673.2:g.65623846G>C GRCh38
NC_000011.9:g.65391317G>C , CM000673.1:g.65391317G>C GRCh37
NC_000011.8:g.65147893G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032223.4:c.2512-83G>C (PCNX3) MANE Select NP_115599.2:n.2512-83G>C
ENST00000355703.4:c.2512-83G>C (PCNX3) MANE Select ENSP00000347931.3:n.2512-83G>C
NM_032223.3:c.2512-83G>C (PCNX3) NP_115599.2:n.2512-83G>C
ENST00000355703.3:c.2512-83G>C (PCNX3) ENSP00000347931.3:n.2512-83G>C
ENST00000394227.7:c.-98-16978G>C (SIPA1) ENSP00000377774.4:n.-98-16978G>C
ENST00000628801.2:c.-98-16978G>C (SIPA1) ENSP00000485899.1:n.-98-16978G>C
XM_005273987.3:c.2548-83G>C (PCNX3) XP_005274044.1:n.2548-83G>C
XM_005273987.5:c.2548-83G>C (PCNX3) XP_005274044.1:n.2548-83G>C
XM_005273988.3:c.2551-83G>C (PCNX3) XP_005274045.1:n.2551-83G>C
XM_005273990.3:c.2551-83G>C (PCNX3) XP_005274047.1:n.2551-83G>C
XM_005273990.5:c.2551-83G>C (PCNX3) XP_005274047.1:n.2551-83G>C
XM_006718549.2:c.2533-83G>C (PCNX3) XP_006718612.1:n.2533-83G>C
XM_006718549.4:c.2533-83G>C (PCNX3) XP_006718612.1:n.2533-83G>C
XM_006718551.2:c.2551-83G>C (PCNX3) XP_006718614.1:n.2551-83G>C
XM_011545024.1:c.2551-83G>C (PCNX3) XP_011543326.1:n.2551-83G>C
XM_011545024.2:c.2551-83G>C (PCNX3) XP_011543326.1:n.2551-83G>C
XM_011545025.1:c.2551-83G>C (PCNX3) XP_011543327.1:n.2551-83G>C
XM_011545025.3:c.2551-83G>C (PCNX3) XP_011543327.1:n.2551-83G>C
XM_011545026.1:c.739-83G>C (PCNX3) XP_011543328.1:n.739-83G>C
XM_011545026.3:c.739-83G>C (PCNX3) XP_011543328.1:n.739-83G>C
XM_011545027.1:c.313-83G>C (PCNX3) XP_011543329.1:n.313-83G>C
XM_011545028.1:c.2551-83G>C (PCNX3) XP_011543330.1:n.2551-83G>C
XM_011545028.3:c.2551-83G>C (PCNX3) XP_011543330.1:n.2551-83G>C
XR_002957146.1:n.4174-83G>C (PCNX3)