Canonical Allele Identifier: CA10629431
Community Standard Title: NM_139027.6(ADAMTS13):c.3495C>T (p.Leu1165=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133456163C>T , CM000671.2:g.133456163C>T GRCh38
NC_000009.10:g.135311106C>T NCBI36
NG_011934.2:g.46825C>T , LRG_544:g.46825C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.3495C>T MANE Select NP_620596.2:p.Leu1165=
ENST00000355699.7:c.3495C>T MANE Select ENSP00000347927.2:p.Leu1165=
NM_139025.4:c.3663C>T , LRG_544t1:c.3663C>T NP_620594.1:p.Leu1221=
NM_139025.5:c.3663C>T NP_620594.1:p.Leu1221=
NM_139026.4:c.3402C>T NP_620595.1:p.Leu1134=
NM_139026.5:c.3402C>T NP_620595.1:p.Leu1134=
NM_139026.6:c.3402C>T NP_620595.1:p.Leu1134=
NM_139027.4:c.3495C>T NP_620596.2:p.Leu1165=
NM_139027.5:c.3495C>T NP_620596.2:p.Leu1165=
NR_024514.2:n.2330C>T
NR_024514.3:n.2332C>T
ENST00000355699.6:c.3495C>T ENSP00000347927.2:p.Leu1165=
ENST00000356589.6:c.3402C>T ENSP00000348997.2:p.Leu1134=
ENST00000371910.1:c.51C>T ENSP00000360978.1:p.Leu17=
ENST00000371916.5:c.*964C>T ENSP00000360984.2:n.*964C>T
ENST00000371929.7:c.3663C>T ENSP00000360997.3:p.Leu1221=
ENST00000485925.5:n.2311C>T
XM_011518174.1:c.3273C>T XP_011516476.1:p.Leu1091=
XM_011518175.1:c.*70C>T XP_011516477.1:n.*70C>T
XM_011518176.1:c.2679C>T XP_011516478.1:p.Leu893=
XM_011518176.3:c.2679C>T XP_011516478.1:p.Leu893=
XM_011518177.1:c.2673C>T XP_011516479.1:p.Leu891=
XM_011518178.1:c.2328C>T XP_011516480.1:p.Leu776=
XM_011518178.2:c.2328C>T XP_011516480.1:p.Leu776=
XM_011518179.1:c.2328C>T XP_011516481.1:p.Leu776=
XM_011518180.1:c.1929C>T XP_011516482.1:p.Leu643=
XM_017014232.1:c.3651C>T XP_016869721.1:p.Leu1217=
XM_017014233.1:c.3273C>T XP_016869722.1:p.Leu1091=
XM_017014234.2:c.2673C>T XP_016869723.1:p.Leu891=