Canonical Allele Identifier: CA375391586

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436871-G-C
• MyVariant Identifiers: chr9:g.133436871G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436871G>C , CM000671.2:g.133436871G>C	GRCh38
NC_000009.10:g.135291812G>C	NCBI36
NG_011934.2:g.27533G>C , LRG_544:g.27533G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1351G>C MANE Select	ENSP00000347927.2:p.Ala451Pro
ENST00000355699.6:c.1351G>C	ENSP00000347927.2:p.Ala451Pro
ENST00000356589.6:c.1258G>C	ENSP00000348997.2:p.Ala420Pro
ENST00000371916.5:c.607G>C	ENSP00000360984.2:p.Ala203Pro
ENST00000371929.7:c.1351G>C	ENSP00000360997.3:p.Ala451Pro
ENST00000474918.1:c.*155G>C	ENSP00000435305.1:n.*155G>C
ENST00000485925.5:n.974-2495G>C
ENST00000495234.5:c.*635G>C	ENSP00000435274.1:n.*635G>C
NM_139025.4:c.1351G>C , LRG_544t1:c.1351G>C	NP_620594.1:p.Ala451Pro
NM_139026.4:c.1258G>C	NP_620595.1:p.Ala420Pro
NM_139027.4:c.1351G>C	NP_620596.2:p.Ala451Pro
NR_024514.2:n.993-2495G>C
XM_011518174.1:c.961G>C	XP_011516476.1:p.Ala321Pro
XM_011518175.1:c.1351G>C	XP_011516477.1:p.Ala451Pro
XM_011518176.1:c.367G>C	XP_011516478.1:p.Ala123Pro
XM_011518177.1:c.361G>C	XP_011516479.1:p.Ala121Pro
XM_011518178.1:c.16G>C	XP_011516480.1:p.Ala6Pro
XM_011518179.1:c.137G>C	XP_011516481.1:p.Arg46Pro
XM_011518180.1:c.687-7992G>C	XP_011516482.1:n.687-7992G>C
XM_011518176.3:c.367G>C	XP_011516478.1:p.Ala123Pro
XM_011518178.2:c.16G>C	XP_011516480.1:p.Ala6Pro
XM_017014232.1:c.1339G>C	XP_016869721.1:p.Ala447Pro
XM_017014233.1:c.961G>C	XP_016869722.1:p.Ala321Pro
XM_017014234.2:c.361G>C	XP_016869723.1:p.Ala121Pro
XM_017014235.1:c.1351G>C	XP_016869724.1:p.Ala451Pro
XR_001746171.1:n.2576G>C
NM_139026.5:c.1258G>C	NP_620595.1:p.Ala420Pro
NM_139027.5:c.1351G>C	NP_620596.2:p.Ala451Pro
NM_139025.5:c.1351G>C	NP_620594.1:p.Ala451Pro
NM_139026.6:c.1258G>C	NP_620595.1:p.Ala420Pro
NM_139027.6:c.1351G>C MANE Select	NP_620596.2:p.Ala451Pro
NR_024514.3:n.995-2495G>C