Canonical Allele Identifier: CA375410149

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454455-G-A
• MyVariant Identifiers: chr9:g.133454455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454455G>A , CM000671.2:g.133454455G>A	GRCh38
NC_000009.10:g.135309398G>A	NCBI36
NG_011934.2:g.45117G>A , LRG_544:g.45117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.3085G>A MANE Select	ENSP00000347927.2:p.Gly1029Ser
ENST00000355699.6:c.3085G>A	ENSP00000347927.2:p.Gly1029Ser
ENST00000356589.6:c.2992G>A	ENSP00000348997.2:p.Gly998Ser
ENST00000371916.5:c.*554G>A	ENSP00000360984.2:n.*554G>A
ENST00000371929.7:c.3085G>A	ENSP00000360997.3:p.Gly1029Ser
ENST00000485925.5:n.1901G>A
NM_139025.4:c.3085G>A , LRG_544t1:c.3085G>A	NP_620594.1:p.Gly1029Ser
NM_139026.4:c.2992G>A	NP_620595.1:p.Gly998Ser
NM_139027.4:c.3085G>A	NP_620596.2:p.Gly1029Ser
NR_024514.2:n.1920G>A
XM_011518174.1:c.2695G>A	XP_011516476.1:p.Gly899Ser
XM_011518175.1:c.3085G>A	XP_011516477.1:p.Gly1029Ser
XM_011518176.1:c.2101G>A	XP_011516478.1:p.Gly701Ser
XM_011518177.1:c.2095G>A	XP_011516479.1:p.Gly699Ser
XM_011518178.1:c.1750G>A	XP_011516480.1:p.Gly584Ser
XM_011518179.1:c.1750G>A	XP_011516481.1:p.Gly584Ser
XM_011518180.1:c.1351G>A	XP_011516482.1:p.Gly451Ser
XM_011518176.3:c.2101G>A	XP_011516478.1:p.Gly701Ser
XM_011518178.2:c.1750G>A	XP_011516480.1:p.Gly584Ser
XM_017014232.1:c.3073G>A	XP_016869721.1:p.Gly1025Ser
XM_017014233.1:c.2695G>A	XP_016869722.1:p.Gly899Ser
XM_017014234.2:c.2095G>A	XP_016869723.1:p.Gly699Ser
XR_001746171.1:n.3858G>A
NM_139026.5:c.2992G>A	NP_620595.1:p.Gly998Ser
NM_139027.5:c.3085G>A	NP_620596.2:p.Gly1029Ser
NM_139025.5:c.3085G>A	NP_620594.1:p.Gly1029Ser
NM_139026.6:c.2992G>A	NP_620595.1:p.Gly998Ser
NM_139027.6:c.3085G>A MANE Select	NP_620596.2:p.Gly1029Ser
NR_024514.3:n.1922G>A