Canonical Allele Identifier: CA375391904

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436950G>C , CM000671.2:g.133436950G>C	GRCh38
NC_000009.10:g.135291891G>C	NCBI36
NG_011934.2:g.27612G>C , LRG_544:g.27612G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1430G>C MANE Select	ENSP00000347927.2:p.Ser477Thr
ENST00000355699.6:c.1430G>C	ENSP00000347927.2:p.Ser477Thr
ENST00000356589.6:c.1337G>C	ENSP00000348997.2:p.Ser446Thr
ENST00000371916.5:c.686G>C	ENSP00000360984.2:p.Ser229Thr
ENST00000371929.7:c.1430G>C	ENSP00000360997.3:p.Ser477Thr
ENST00000474918.1:c.*234G>C	ENSP00000435305.1:n.*234G>C
ENST00000485925.5:n.974-2416G>C
ENST00000495234.5:c.*714G>C	ENSP00000435274.1:n.*714G>C
NM_139025.4:c.1430G>C , LRG_544t1:c.1430G>C	NP_620594.1:p.Ser477Thr
NM_139026.4:c.1337G>C	NP_620595.1:p.Ser446Thr
NM_139027.4:c.1430G>C	NP_620596.2:p.Ser477Thr
NR_024514.2:n.993-2416G>C
XM_011518174.1:c.1040G>C	XP_011516476.1:p.Ser347Thr
XM_011518175.1:c.1430G>C	XP_011516477.1:p.Ser477Thr
XM_011518176.1:c.446G>C	XP_011516478.1:p.Ser149Thr
XM_011518177.1:c.440G>C	XP_011516479.1:p.Ser147Thr
XM_011518178.1:c.95G>C	XP_011516480.1:p.Ser32Thr
XM_011518179.1:c.216G>C	XP_011516481.1:p.Gln72His
XM_011518180.1:c.687-7913G>C	XP_011516482.1:n.687-7913G>C
XM_011518176.3:c.446G>C	XP_011516478.1:p.Ser149Thr
XM_011518178.2:c.95G>C	XP_011516480.1:p.Ser32Thr
XM_017014232.1:c.1418G>C	XP_016869721.1:p.Ser473Thr
XM_017014233.1:c.1040G>C	XP_016869722.1:p.Ser347Thr
XM_017014234.2:c.440G>C	XP_016869723.1:p.Ser147Thr
XM_017014235.1:c.1430G>C	XP_016869724.1:p.Ser477Thr
XR_001746171.1:n.2655G>C
NM_139026.5:c.1337G>C	NP_620595.1:p.Ser446Thr
NM_139027.5:c.1430G>C	NP_620596.2:p.Ser477Thr
NM_139025.5:c.1430G>C	NP_620594.1:p.Ser477Thr
NM_139026.6:c.1337G>C	NP_620595.1:p.Ser446Thr
NM_139027.6:c.1430G>C MANE Select	NP_620596.2:p.Ser477Thr
NR_024514.3:n.995-2416G>C