Canonical Allele Identifier: CA220059

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133428650G>C , CM000671.2:g.133428650G>C	GRCh38
NC_000009.10:g.135283591G>C	NCBI36
NG_011934.2:g.19312G>C , LRG_544:g.19312G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.703G>C MANE Select	NP_620596.2:p.Asp235His
ENST00000355699.7:c.703G>C MANE Select	ENSP00000347927.2:p.Asp235His
NM_139025.4:c.703G>C , LRG_544t1:c.703G>C	NP_620594.1:p.Asp235His
NM_139025.5:c.703G>C	NP_620594.1:p.Asp235His
NM_139026.4:c.703G>C	NP_620595.1:p.Asp235His
NM_139026.5:c.703G>C	NP_620595.1:p.Asp235His
NM_139026.6:c.703G>C	NP_620595.1:p.Asp235His
NM_139027.4:c.703G>C	NP_620596.2:p.Asp235His
NM_139027.5:c.703G>C	NP_620596.2:p.Asp235His
NR_024514.2:n.887+2305G>C
NR_024514.3:n.889+2305G>C
ENST00000355699.6:c.703G>C	ENSP00000347927.2:p.Asp235His
ENST00000356589.6:c.703G>C	ENSP00000348997.2:p.Asp235His
ENST00000371911.7:c.703G>C	ENSP00000360979.3:p.Asp235His
ENST00000371916.5:c.-42G>C	ENSP00000360984.2:n.-42G>C
ENST00000371929.7:c.703G>C	ENSP00000360997.3:p.Asp235His
ENST00000474918.1:c.686+2305G>C	ENSP00000435305.1:n.686+2305G>C
ENST00000485925.5:n.868+2305G>C
ENST00000495234.5:c.703G>C	ENSP00000435274.1:p.Asp235His
XM_011518174.1:c.313G>C	XP_011516476.1:p.Asp105His
XM_011518175.1:c.703G>C	XP_011516477.1:p.Asp235His
XM_011518177.1:c.-4+2305G>C	XP_011516479.1:n.-4+2305G>C
XM_011518180.1:c.686+2305G>C	XP_011516482.1:n.686+2305G>C
XM_017014232.1:c.691G>C	XP_016869721.1:p.Asp231His
XM_017014233.1:c.313G>C	XP_016869722.1:p.Asp105His
XM_017014234.2:c.-4+2305G>C	XP_016869723.1:n.-4+2305G>C
XM_017014235.1:c.703G>C	XP_016869724.1:p.Asp235His
XR_001746171.1:n.1928G>C