Canonical Allele Identifier: CA375410168

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454459T>C , CM000671.2:g.133454459T>C	GRCh38
NC_000009.10:g.135309402T>C	NCBI36
NG_011934.2:g.45121T>C , LRG_544:g.45121T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.3089T>C MANE Select	ENSP00000347927.2:p.Leu1030Pro
ENST00000355699.6:c.3089T>C	ENSP00000347927.2:p.Leu1030Pro
ENST00000356589.6:c.2996T>C	ENSP00000348997.2:p.Leu999Pro
ENST00000371916.5:c.*558T>C	ENSP00000360984.2:n.*558T>C
ENST00000371929.7:c.3089T>C	ENSP00000360997.3:p.Leu1030Pro
ENST00000485925.5:n.1905T>C
NM_139025.4:c.3089T>C , LRG_544t1:c.3089T>C	NP_620594.1:p.Leu1030Pro
NM_139026.4:c.2996T>C	NP_620595.1:p.Leu999Pro
NM_139027.4:c.3089T>C	NP_620596.2:p.Leu1030Pro
NR_024514.2:n.1924T>C
XM_011518174.1:c.2699T>C	XP_011516476.1:p.Leu900Pro
XM_011518175.1:c.3089T>C	XP_011516477.1:p.Leu1030Pro
XM_011518176.1:c.2105T>C	XP_011516478.1:p.Leu702Pro
XM_011518177.1:c.2099T>C	XP_011516479.1:p.Leu700Pro
XM_011518178.1:c.1754T>C	XP_011516480.1:p.Leu585Pro
XM_011518179.1:c.1754T>C	XP_011516481.1:p.Leu585Pro
XM_011518180.1:c.1355T>C	XP_011516482.1:p.Leu452Pro
XM_011518176.3:c.2105T>C	XP_011516478.1:p.Leu702Pro
XM_011518178.2:c.1754T>C	XP_011516480.1:p.Leu585Pro
XM_017014232.1:c.3077T>C	XP_016869721.1:p.Leu1026Pro
XM_017014233.1:c.2699T>C	XP_016869722.1:p.Leu900Pro
XM_017014234.2:c.2099T>C	XP_016869723.1:p.Leu700Pro
XR_001746171.1:n.3862T>C
NM_139026.5:c.2996T>C	NP_620595.1:p.Leu999Pro
NM_139027.5:c.3089T>C	NP_620596.2:p.Leu1030Pro
NM_139025.5:c.3089T>C	NP_620594.1:p.Leu1030Pro
NM_139026.6:c.2996T>C	NP_620595.1:p.Leu999Pro
NM_139027.6:c.3089T>C MANE Select	NP_620596.2:p.Leu1030Pro
NR_024514.3:n.1926T>C