Canonical Allele Identifier: CA375415143

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456138G>C , CM000671.2:g.133456138G>C	GRCh38
NC_000009.10:g.135311081G>C	NCBI36
NG_011934.2:g.46800G>C , LRG_544:g.46800G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3470G>C MANE Select	ENSP00000347927.2:p.Cys1157Ser
ENST00000355699.6:c.3470G>C	ENSP00000347927.2:p.Cys1157Ser
ENST00000356589.6:c.3377G>C	ENSP00000348997.2:p.Cys1126Ser
ENST00000371910.1:c.26G>C	ENSP00000360978.1:p.Cys9Ser
ENST00000371916.5:c.*939G>C	ENSP00000360984.2:n.*939G>C
ENST00000371929.7:c.3638G>C	ENSP00000360997.3:p.Cys1213Ser
ENST00000485925.5:n.2286G>C
NM_139025.4:c.3638G>C , LRG_544t1:c.3638G>C	NP_620594.1:p.Cys1213Ser
NM_139026.4:c.3377G>C	NP_620595.1:p.Cys1126Ser
NM_139027.4:c.3470G>C	NP_620596.2:p.Cys1157Ser
NR_024514.2:n.2305G>C
XM_011518174.1:c.3248G>C	XP_011516476.1:p.Cys1083Ser
XM_011518175.1:c.*45G>C	XP_011516477.1:n.*45G>C
XM_011518176.1:c.2654G>C	XP_011516478.1:p.Cys885Ser
XM_011518177.1:c.2648G>C	XP_011516479.1:p.Cys883Ser
XM_011518178.1:c.2303G>C	XP_011516480.1:p.Cys768Ser
XM_011518179.1:c.2303G>C	XP_011516481.1:p.Cys768Ser
XM_011518180.1:c.1904G>C	XP_011516482.1:p.Cys635Ser
XM_011518176.3:c.2654G>C	XP_011516478.1:p.Cys885Ser
XM_011518178.2:c.2303G>C	XP_011516480.1:p.Cys768Ser
XM_017014232.1:c.3626G>C	XP_016869721.1:p.Cys1209Ser
XM_017014233.1:c.3248G>C	XP_016869722.1:p.Cys1083Ser
XM_017014234.2:c.2648G>C	XP_016869723.1:p.Cys883Ser
NM_139026.5:c.3377G>C	NP_620595.1:p.Cys1126Ser
NM_139027.5:c.3470G>C	NP_620596.2:p.Cys1157Ser
NM_139025.5:c.3638G>C	NP_620594.1:p.Cys1213Ser
NM_139026.6:c.3377G>C	NP_620595.1:p.Cys1126Ser
NM_139027.6:c.3470G>C MANE Select	NP_620596.2:p.Cys1157Ser
NR_024514.3:n.2307G>C