Canonical Allele Identifier: CA375414658

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133456071-G-A
• MyVariant Identifiers: chr9:g.133456071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456071G>A , CM000671.2:g.133456071G>A	GRCh38
NC_000009.10:g.135311014G>A	NCBI36
NG_011934.2:g.46733G>A , LRG_544:g.46733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3403G>A MANE Select	ENSP00000347927.2:p.Ala1135Thr
ENST00000355699.6:c.3403G>A	ENSP00000347927.2:p.Ala1135Thr
ENST00000356589.6:c.3310G>A	ENSP00000348997.2:p.Ala1104Thr
ENST00000371910.1:c.-42G>A	ENSP00000360978.1:n.-42G>A
ENST00000371916.5:c.*872G>A	ENSP00000360984.2:n.*872G>A
ENST00000371929.7:c.3571G>A	ENSP00000360997.3:p.Ala1191Thr
ENST00000485925.5:n.2219G>A
NM_139025.4:c.3571G>A , LRG_544t1:c.3571G>A	NP_620594.1:p.Ala1191Thr
NM_139026.4:c.3310G>A	NP_620595.1:p.Ala1104Thr
NM_139027.4:c.3403G>A	NP_620596.2:p.Ala1135Thr
NR_024514.2:n.2238G>A
XM_011518174.1:c.3181G>A	XP_011516476.1:p.Ala1061Thr
XM_011518175.1:c.3572G>A	XP_011516477.1:p.Cys1191Tyr
XM_011518176.1:c.2587G>A	XP_011516478.1:p.Ala863Thr
XM_011518177.1:c.2581G>A	XP_011516479.1:p.Ala861Thr
XM_011518178.1:c.2236G>A	XP_011516480.1:p.Ala746Thr
XM_011518179.1:c.2236G>A	XP_011516481.1:p.Ala746Thr
XM_011518180.1:c.1837G>A	XP_011516482.1:p.Ala613Thr
XM_011518176.3:c.2587G>A	XP_011516478.1:p.Ala863Thr
XM_011518178.2:c.2236G>A	XP_011516480.1:p.Ala746Thr
XM_017014232.1:c.3559G>A	XP_016869721.1:p.Ala1187Thr
XM_017014233.1:c.3181G>A	XP_016869722.1:p.Ala1061Thr
XM_017014234.2:c.2581G>A	XP_016869723.1:p.Ala861Thr
NM_139026.5:c.3310G>A	NP_620595.1:p.Ala1104Thr
NM_139027.5:c.3403G>A	NP_620596.2:p.Ala1135Thr
NM_139025.5:c.3571G>A	NP_620594.1:p.Ala1191Thr
NM_139026.6:c.3310G>A	NP_620595.1:p.Ala1104Thr
NM_139027.6:c.3403G>A MANE Select	NP_620596.2:p.Ala1135Thr
NR_024514.3:n.2240G>A