Canonical Allele Identifier: CA375414974

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456114T>A , CM000671.2:g.133456114T>A	GRCh38
NC_000009.10:g.135311057T>A	NCBI36
NG_011934.2:g.46776T>A , LRG_544:g.46776T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3446T>A MANE Select	ENSP00000347927.2:p.Met1149Lys
ENST00000355699.6:c.3446T>A	ENSP00000347927.2:p.Met1149Lys
ENST00000356589.6:c.3353T>A	ENSP00000348997.2:p.Met1118Lys
ENST00000371910.1:c.2T>A	ENSP00000360978.1:p.Met1Lys
ENST00000371916.5:c.*915T>A	ENSP00000360984.2:n.*915T>A
ENST00000371929.7:c.3614T>A	ENSP00000360997.3:p.Met1205Lys
ENST00000485925.5:n.2262T>A
NM_139025.4:c.3614T>A , LRG_544t1:c.3614T>A	NP_620594.1:p.Met1205Lys
NM_139026.4:c.3353T>A	NP_620595.1:p.Met1118Lys
NM_139027.4:c.3446T>A	NP_620596.2:p.Met1149Lys
NR_024514.2:n.2281T>A
XM_011518174.1:c.3224T>A	XP_011516476.1:p.Met1075Lys
XM_011518175.1:c.*21T>A	XP_011516477.1:n.*21T>A
XM_011518176.1:c.2630T>A	XP_011516478.1:p.Met877Lys
XM_011518177.1:c.2624T>A	XP_011516479.1:p.Met875Lys
XM_011518178.1:c.2279T>A	XP_011516480.1:p.Met760Lys
XM_011518179.1:c.2279T>A	XP_011516481.1:p.Met760Lys
XM_011518180.1:c.1880T>A	XP_011516482.1:p.Met627Lys
XM_011518176.3:c.2630T>A	XP_011516478.1:p.Met877Lys
XM_011518178.2:c.2279T>A	XP_011516480.1:p.Met760Lys
XM_017014232.1:c.3602T>A	XP_016869721.1:p.Met1201Lys
XM_017014233.1:c.3224T>A	XP_016869722.1:p.Met1075Lys
XM_017014234.2:c.2624T>A	XP_016869723.1:p.Met875Lys
NM_139026.5:c.3353T>A	NP_620595.1:p.Met1118Lys
NM_139027.5:c.3446T>A	NP_620596.2:p.Met1149Lys
NM_139025.5:c.3614T>A	NP_620594.1:p.Met1205Lys
NM_139026.6:c.3353T>A	NP_620595.1:p.Met1118Lys
NM_139027.6:c.3446T>A MANE Select	NP_620596.2:p.Met1149Lys
NR_024514.3:n.2283T>A