Canonical Allele Identifier: CA9811856
Community Standard Title: NM_080675.4(SUN5):c.419G>A (p.Ser140Asn)
Gene: SUN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32996330C>T , CM000682.2:g.32996330C>T GRCh38
NC_000020.10:g.31584136C>T , CM000682.1:g.31584136C>T GRCh37
NC_000020.9:g.31047797C>T NCBI36
NG_054760.1:g.13120G>A

Transcript Alleles

HGVS Amino-acid Change
NM_080675.4:c.419G>A MANE Select NP_542406.2:p.Ser140Asn
ENST00000356173.8:c.419G>A MANE Select ENSP00000348496.3:p.Ser140Asn
NM_080675.3:c.419G>A NP_542406.2:p.Ser140Asn
ENST00000356173.7:c.419G>A ENSP00000348496.3:p.Ser140Asn
ENST00000375523.7:c.344G>A ENSP00000364673.3:p.Ser115Asn
XM_011528573.1:c.488G>A XP_011526875.1:p.Ser163Asn
XM_011528574.1:c.344G>A XP_011526876.1:p.Ser115Asn
XM_011528575.1:c.149G>A XP_011526877.1:p.Ser50Asn
XM_011528576.1:c.488G>A XP_011526878.1:p.Ser163Asn