Canonical Allele Identifier: CA200938991
Community Standard Title: NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133448613C>T , CM000671.2:g.133448613C>T GRCh38
NC_000009.10:g.135303555C>T NCBI36
NG_011934.2:g.39275C>T , LRG_544:g.39275C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.2746C>T MANE Select NP_620596.2:p.Arg916Cys
ENST00000355699.7:c.2746C>T MANE Select ENSP00000347927.2:p.Arg916Cys
NM_139025.4:c.2746C>T , LRG_544t1:c.2746C>T NP_620594.1:p.Arg916Cys
NM_139025.5:c.2746C>T NP_620594.1:p.Arg916Cys
NM_139026.4:c.2653C>T NP_620595.1:p.Arg885Cys
NM_139026.5:c.2653C>T NP_620595.1:p.Arg885Cys
NM_139026.6:c.2653C>T NP_620595.1:p.Arg885Cys
NM_139027.4:c.2746C>T NP_620596.2:p.Arg916Cys
NM_139027.5:c.2746C>T NP_620596.2:p.Arg916Cys
NR_024514.2:n.1581C>T
NR_024514.3:n.1583C>T
ENST00000355699.6:c.2746C>T ENSP00000347927.2:p.Arg916Cys
ENST00000356589.6:c.2653C>T ENSP00000348997.2:p.Arg885Cys
ENST00000371916.5:c.*215C>T ENSP00000360984.2:n.*215C>T
ENST00000371929.7:c.2746C>T ENSP00000360997.3:p.Arg916Cys
ENST00000485925.5:n.1562C>T
ENST00000495234.5:c.*1578C>T ENSP00000435274.1:n.*1578C>T
XM_011518174.1:c.2356C>T XP_011516476.1:p.Arg786Cys
XM_011518175.1:c.2746C>T XP_011516477.1:p.Arg916Cys
XM_011518176.1:c.1762C>T XP_011516478.1:p.Arg588Cys
XM_011518176.3:c.1762C>T XP_011516478.1:p.Arg588Cys
XM_011518177.1:c.1756C>T XP_011516479.1:p.Arg586Cys
XM_011518178.1:c.1411C>T XP_011516480.1:p.Arg471Cys
XM_011518178.2:c.1411C>T XP_011516480.1:p.Arg471Cys
XM_011518179.1:c.1411C>T XP_011516481.1:p.Arg471Cys
XM_011518180.1:c.1012C>T XP_011516482.1:p.Arg338Cys
XM_017014232.1:c.2734C>T XP_016869721.1:p.Arg912Cys
XM_017014233.1:c.2356C>T XP_016869722.1:p.Arg786Cys
XM_017014234.2:c.1756C>T XP_016869723.1:p.Arg586Cys
XR_001746171.1:n.3519C>T