Canonical Allele Identifier: CA839133115
Gene: SUN3 HGNC NCBI

Linked Data

dbSNP Id: rs1421207008
gnomAD v3: 7-47992045-C-T
gnomAD v4: 7-47992045-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.47992045C>T , CM000669.2:g.47992045C>T GRCh38
NC_000007.13:g.48031642C>T , CM000669.1:g.48031642C>T GRCh37
NC_000007.12:g.47998167C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297325.9:c.861+2270G>A MANE Select ENSP00000297325.4:n.861+2270G>A
ENST00000297325.8:c.861+2270G>A ENSP00000297325.4:n.861+2270G>A
ENST00000395572.6:c.861+2270G>A ENSP00000378939.2:n.861+2270G>A
ENST00000412142.5:c.825+2270G>A ENSP00000410204.2:n.825+2270G>A
ENST00000412371.5:c.327+2270G>A ENSP00000406887.1:n.327+2270G>A
ENST00000438771.5:c.562-1000G>A ENSP00000409077.1:n.562-1000G>A
ENST00000449896.2:c.*689+2270G>A ENSP00000395392.2:n.*689+2270G>A
ENST00000453071.5:c.632+2270G>A
ENST00000453192.3:c.573+2258G>A ENSP00000387525.3:n.573+2258G>A
ENST00000473723.5:n.339-1000G>A
NM_001030019.1:c.861+2270G>A NP_001025190.1:n.861+2270G>A
NM_001284350.1:c.825+2270G>A NP_001271279.1:n.825+2270G>A
NM_152782.3:c.861+2270G>A NP_689995.3:n.861+2270G>A
XM_011515252.1:c.883-1000G>A XP_011513554.1:n.883-1000G>A
XM_011515253.1:c.583-1000G>A XP_011513555.1:n.583-1000G>A
XM_017011930.1:c.861+2270G>A XP_016867419.1:n.861+2270G>A
XR_002956417.1:n.1148+846G>A
NM_001030019.2:c.861+2270G>A MANE Select NP_001025190.1:n.861+2270G>A
NM_001284350.2:c.825+2270G>A NP_001271279.1:n.825+2270G>A
NM_152782.4:c.861+2270G>A NP_689995.3:n.861+2270G>A