Canonical Allele Identifier: CA375414810

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456090T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456090T>C , CM000671.2:g.133456090T>C	GRCh38
NC_000009.10:g.135311033T>C	NCBI36
NG_011934.2:g.46752T>C , LRG_544:g.46752T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3422T>C MANE Select	ENSP00000347927.2:p.Leu1141Pro
ENST00000355699.6:c.3422T>C	ENSP00000347927.2:p.Leu1141Pro
ENST00000356589.6:c.3329T>C	ENSP00000348997.2:p.Leu1110Pro
ENST00000371910.1:c.-23T>C	ENSP00000360978.1:n.-23T>C
ENST00000371916.5:c.*891T>C	ENSP00000360984.2:n.*891T>C
ENST00000371929.7:c.3590T>C	ENSP00000360997.3:p.Leu1197Pro
ENST00000485925.5:n.2238T>C
NM_139025.4:c.3590T>C , LRG_544t1:c.3590T>C	NP_620594.1:p.Leu1197Pro
NM_139026.4:c.3329T>C	NP_620595.1:p.Leu1110Pro
NM_139027.4:c.3422T>C	NP_620596.2:p.Leu1141Pro
NR_024514.2:n.2257T>C
XM_011518174.1:c.3200T>C	XP_011516476.1:p.Leu1067Pro
XM_011518175.1:c.3591T>C	XP_011516477.1:p.Pro1197=
XM_011518176.1:c.2606T>C	XP_011516478.1:p.Leu869Pro
XM_011518177.1:c.2600T>C	XP_011516479.1:p.Leu867Pro
XM_011518178.1:c.2255T>C	XP_011516480.1:p.Leu752Pro
XM_011518179.1:c.2255T>C	XP_011516481.1:p.Leu752Pro
XM_011518180.1:c.1856T>C	XP_011516482.1:p.Leu619Pro
XM_011518176.3:c.2606T>C	XP_011516478.1:p.Leu869Pro
XM_011518178.2:c.2255T>C	XP_011516480.1:p.Leu752Pro
XM_017014232.1:c.3578T>C	XP_016869721.1:p.Leu1193Pro
XM_017014233.1:c.3200T>C	XP_016869722.1:p.Leu1067Pro
XM_017014234.2:c.2600T>C	XP_016869723.1:p.Leu867Pro
NM_139026.5:c.3329T>C	NP_620595.1:p.Leu1110Pro
NM_139027.5:c.3422T>C	NP_620596.2:p.Leu1141Pro
NM_139025.5:c.3590T>C	NP_620594.1:p.Leu1197Pro
NM_139026.6:c.3329T>C	NP_620595.1:p.Leu1110Pro
NM_139027.6:c.3422T>C MANE Select	NP_620596.2:p.Leu1141Pro
NR_024514.3:n.2259T>C