Canonical Allele Identifier: CA375391823

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436929G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436929G>C , CM000671.2:g.133436929G>C	GRCh38
NC_000009.10:g.135291870G>C	NCBI36
NG_011934.2:g.27591G>C , LRG_544:g.27591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1409G>C MANE Select	ENSP00000347927.2:p.Trp470Ser
ENST00000355699.6:c.1409G>C	ENSP00000347927.2:p.Trp470Ser
ENST00000356589.6:c.1316G>C	ENSP00000348997.2:p.Trp439Ser
ENST00000371916.5:c.665G>C	ENSP00000360984.2:p.Trp222Ser
ENST00000371929.7:c.1409G>C	ENSP00000360997.3:p.Trp470Ser
ENST00000474918.1:c.*213G>C	ENSP00000435305.1:n.*213G>C
ENST00000485925.5:n.974-2437G>C
ENST00000495234.5:c.*693G>C	ENSP00000435274.1:n.*693G>C
NM_139025.4:c.1409G>C , LRG_544t1:c.1409G>C	NP_620594.1:p.Trp470Ser
NM_139026.4:c.1316G>C	NP_620595.1:p.Trp439Ser
NM_139027.4:c.1409G>C	NP_620596.2:p.Trp470Ser
NR_024514.2:n.993-2437G>C
XM_011518174.1:c.1019G>C	XP_011516476.1:p.Trp340Ser
XM_011518175.1:c.1409G>C	XP_011516477.1:p.Trp470Ser
XM_011518176.1:c.425G>C	XP_011516478.1:p.Trp142Ser
XM_011518177.1:c.419G>C	XP_011516479.1:p.Trp140Ser
XM_011518178.1:c.74G>C	XP_011516480.1:p.Trp25Ser
XM_011518179.1:c.195G>C	XP_011516481.1:p.Leu65=
XM_011518180.1:c.687-7934G>C	XP_011516482.1:n.687-7934G>C
XM_011518176.3:c.425G>C	XP_011516478.1:p.Trp142Ser
XM_011518178.2:c.74G>C	XP_011516480.1:p.Trp25Ser
XM_017014232.1:c.1397G>C	XP_016869721.1:p.Trp466Ser
XM_017014233.1:c.1019G>C	XP_016869722.1:p.Trp340Ser
XM_017014234.2:c.419G>C	XP_016869723.1:p.Trp140Ser
XM_017014235.1:c.1409G>C	XP_016869724.1:p.Trp470Ser
XR_001746171.1:n.2634G>C
NM_139026.5:c.1316G>C	NP_620595.1:p.Trp439Ser
NM_139027.5:c.1409G>C	NP_620596.2:p.Trp470Ser
NM_139025.5:c.1409G>C	NP_620594.1:p.Trp470Ser
NM_139026.6:c.1316G>C	NP_620595.1:p.Trp439Ser
NM_139027.6:c.1409G>C MANE Select	NP_620596.2:p.Trp470Ser
NR_024514.3:n.995-2437G>C