Canonical Allele Identifier: CA200944792

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456150T>C , CM000671.2:g.133456150T>C	GRCh38
NC_000009.10:g.135311093T>C	NCBI36
NG_011934.2:g.46812T>C , LRG_544:g.46812T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3482T>C MANE Select	NP_620596.2:p.Ile1161Thr
ENST00000355699.7:c.3482T>C MANE Select	ENSP00000347927.2:p.Ile1161Thr
NM_139025.4:c.3650T>C , LRG_544t1:c.3650T>C	NP_620594.1:p.Ile1217Thr
NM_139025.5:c.3650T>C	NP_620594.1:p.Ile1217Thr
NM_139026.4:c.3389T>C	NP_620595.1:p.Ile1130Thr
NM_139026.5:c.3389T>C	NP_620595.1:p.Ile1130Thr
NM_139026.6:c.3389T>C	NP_620595.1:p.Ile1130Thr
NM_139027.4:c.3482T>C	NP_620596.2:p.Ile1161Thr
NM_139027.5:c.3482T>C	NP_620596.2:p.Ile1161Thr
NR_024514.2:n.2317T>C
NR_024514.3:n.2319T>C
ENST00000355699.6:c.3482T>C	ENSP00000347927.2:p.Ile1161Thr
ENST00000356589.6:c.3389T>C	ENSP00000348997.2:p.Ile1130Thr
ENST00000371910.1:c.38T>C	ENSP00000360978.1:p.Ile13Thr
ENST00000371916.5:c.*951T>C	ENSP00000360984.2:n.*951T>C
ENST00000371929.7:c.3650T>C	ENSP00000360997.3:p.Ile1217Thr
ENST00000485925.5:n.2298T>C
XM_011518174.1:c.3260T>C	XP_011516476.1:p.Ile1087Thr
XM_011518175.1:c.*57T>C	XP_011516477.1:n.*57T>C
XM_011518176.1:c.2666T>C	XP_011516478.1:p.Ile889Thr
XM_011518176.3:c.2666T>C	XP_011516478.1:p.Ile889Thr
XM_011518177.1:c.2660T>C	XP_011516479.1:p.Ile887Thr
XM_011518178.1:c.2315T>C	XP_011516480.1:p.Ile772Thr
XM_011518178.2:c.2315T>C	XP_011516480.1:p.Ile772Thr
XM_011518179.1:c.2315T>C	XP_011516481.1:p.Ile772Thr
XM_011518180.1:c.1916T>C	XP_011516482.1:p.Ile639Thr
XM_017014232.1:c.3638T>C	XP_016869721.1:p.Ile1213Thr
XM_017014233.1:c.3260T>C	XP_016869722.1:p.Ile1087Thr
XM_017014234.2:c.2660T>C	XP_016869723.1:p.Ile887Thr