Canonical Allele Identifier: CA375415773

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456215G>C , CM000671.2:g.133456215G>C	GRCh38
NC_000009.10:g.135311158G>C	NCBI36
NG_011934.2:g.46877G>C , LRG_544:g.46877G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3547G>C MANE Select	NP_620596.2:p.Gly1183Arg
ENST00000355699.7:c.3547G>C MANE Select	ENSP00000347927.2:p.Gly1183Arg
NM_139025.4:c.3715G>C , LRG_544t1:c.3715G>C	NP_620594.1:p.Gly1239Arg
NM_139025.5:c.3715G>C	NP_620594.1:p.Gly1239Arg
NM_139026.4:c.3454G>C	NP_620595.1:p.Gly1152Arg
NM_139026.5:c.3454G>C	NP_620595.1:p.Gly1152Arg
NM_139026.6:c.3454G>C	NP_620595.1:p.Gly1152Arg
NM_139027.4:c.3547G>C	NP_620596.2:p.Gly1183Arg
NM_139027.5:c.3547G>C	NP_620596.2:p.Gly1183Arg
NR_024514.2:n.2382G>C
NR_024514.3:n.2384G>C
ENST00000355699.6:c.3547G>C	ENSP00000347927.2:p.Gly1183Arg
ENST00000356589.6:c.3454G>C	ENSP00000348997.2:p.Gly1152Arg
ENST00000371910.1:c.103G>C	ENSP00000360978.1:p.Gly35Arg
ENST00000371916.5:c.*1016G>C	ENSP00000360984.2:n.*1016G>C
ENST00000371929.7:c.3715G>C	ENSP00000360997.3:p.Gly1239Arg
ENST00000485925.5:n.2363G>C
XM_011518174.1:c.3325G>C	XP_011516476.1:p.Gly1109Arg
XM_011518176.1:c.2731G>C	XP_011516478.1:p.Gly911Arg
XM_011518176.3:c.2731G>C	XP_011516478.1:p.Gly911Arg
XM_011518177.1:c.2725G>C	XP_011516479.1:p.Gly909Arg
XM_011518178.1:c.2380G>C	XP_011516480.1:p.Gly794Arg
XM_011518178.2:c.2380G>C	XP_011516480.1:p.Gly794Arg
XM_011518179.1:c.2380G>C	XP_011516481.1:p.Gly794Arg
XM_011518180.1:c.1981G>C	XP_011516482.1:p.Gly661Arg
XM_017014232.1:c.3703G>C	XP_016869721.1:p.Gly1235Arg
XM_017014233.1:c.3325G>C	XP_016869722.1:p.Gly1109Arg
XM_017014234.2:c.2725G>C	XP_016869723.1:p.Gly909Arg