Canonical Allele Identifier: CA375391537

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs2301612
• gnomAD v4: 9-133436862-C-A
• MyVariant Identifiers: chr9:g.133436862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436862C>A , CM000671.2:g.133436862C>A	GRCh38
NC_000009.10:g.135291803C>A	NCBI36
NG_011934.2:g.27524C>A , LRG_544:g.27524C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1342C>A MANE Select	ENSP00000347927.2:p.Gln448Lys
ENST00000355699.6:c.1342C>A	ENSP00000347927.2:p.Gln448Lys
ENST00000356589.6:c.1249C>A	ENSP00000348997.2:p.Gln417Lys
ENST00000371916.5:c.598C>A	ENSP00000360984.2:p.Gln200Lys
ENST00000371929.7:c.1342C>A	ENSP00000360997.3:p.Gln448Lys
ENST00000474918.1:c.*146C>A	ENSP00000435305.1:n.*146C>A
ENST00000485925.5:n.974-2504C>A
ENST00000495234.5:c.*626C>A	ENSP00000435274.1:n.*626C>A
NM_139025.4:c.1342C>A , LRG_544t1:c.1342C>A	NP_620594.1:p.Gln448Lys
NM_139026.4:c.1249C>A	NP_620595.1:p.Gln417Lys
NM_139027.4:c.1342C>A	NP_620596.2:p.Gln448Lys
NR_024514.2:n.993-2504C>A
XM_011518174.1:c.952C>A	XP_011516476.1:p.Gln318Lys
XM_011518175.1:c.1342C>A	XP_011516477.1:p.Gln448Lys
XM_011518176.1:c.358C>A	XP_011516478.1:p.Gln120Lys
XM_011518177.1:c.352C>A	XP_011516479.1:p.Gln118Lys
XM_011518178.1:c.7C>A	XP_011516480.1:p.Gln3Lys
XM_011518179.1:c.128C>A	XP_011516481.1:p.Ala43Glu
XM_011518180.1:c.687-8001C>A	XP_011516482.1:n.687-8001C>A
XM_011518176.3:c.358C>A	XP_011516478.1:p.Gln120Lys
XM_011518178.2:c.7C>A	XP_011516480.1:p.Gln3Lys
XM_017014232.1:c.1330C>A	XP_016869721.1:p.Gln444Lys
XM_017014233.1:c.952C>A	XP_016869722.1:p.Gln318Lys
XM_017014234.2:c.352C>A	XP_016869723.1:p.Gln118Lys
XM_017014235.1:c.1342C>A	XP_016869724.1:p.Gln448Lys
XR_001746171.1:n.2567C>A
NM_139026.5:c.1249C>A	NP_620595.1:p.Gln417Lys
NM_139027.5:c.1342C>A	NP_620596.2:p.Gln448Lys
NM_139025.5:c.1342C>A	NP_620594.1:p.Gln448Lys
NM_139026.6:c.1249C>A	NP_620595.1:p.Gln417Lys
NM_139027.6:c.1342C>A MANE Select	NP_620596.2:p.Gln448Lys
NR_024514.3:n.995-2504C>A