Canonical Allele Identifier: CA200921997

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133426068C>T , CM000671.2:g.133426068C>T	GRCh38
NC_000009.10:g.135281009C>T	NCBI36
NG_011934.2:g.16730C>T , LRG_544:g.16730C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.539+6C>T MANE Select	NP_620596.2:n.539+6C>T
ENST00000355699.7:c.539+6C>T MANE Select	ENSP00000347927.2:n.539+6C>T
NM_139025.4:c.539+6C>T , LRG_544t1:c.539+6C>T	NP_620594.1:n.539+6C>T
NM_139025.5:c.539+6C>T	NP_620594.1:n.539+6C>T
NM_139026.4:c.539+6C>T	NP_620595.1:n.539+6C>T
NM_139026.5:c.539+6C>T	NP_620595.1:n.539+6C>T
NM_139026.6:c.539+6C>T	NP_620595.1:n.539+6C>T
NM_139027.4:c.539+6C>T	NP_620596.2:n.539+6C>T
NM_139027.5:c.539+6C>T	NP_620596.2:n.539+6C>T
NR_024514.2:n.740+6C>T
NR_024514.3:n.742+6C>T
ENST00000355699.6:c.539+6C>T	ENSP00000347927.2:n.539+6C>T
ENST00000356589.6:c.539+6C>T	ENSP00000348997.2:n.539+6C>T
ENST00000371911.7:c.539+6C>T	ENSP00000360979.3:n.539+6C>T
ENST00000371916.5:c.-206+6C>T	ENSP00000360984.2:n.-206+6C>T
ENST00000371929.7:c.539+6C>T	ENSP00000360997.3:n.539+6C>T
ENST00000474918.1:c.539+6C>T	ENSP00000435305.1:n.539+6C>T
ENST00000485925.5:n.721+6C>T
ENST00000495234.5:c.539+6C>T	ENSP00000435274.1:n.539+6C>T
XM_011518174.1:c.149+6C>T	XP_011516476.1:n.149+6C>T
XM_011518175.1:c.539+6C>T	XP_011516477.1:n.539+6C>T
XM_011518180.1:c.539+6C>T	XP_011516482.1:n.539+6C>T
XM_017014232.1:c.527+6C>T	XP_016869721.1:n.527+6C>T
XM_017014233.1:c.149+6C>T	XP_016869722.1:n.149+6C>T
XM_017014234.2:c.-150-131C>T	XP_016869723.1:n.-150-131C>T
XM_017014235.1:c.539+6C>T	XP_016869724.1:n.539+6C>T
XR_001746171.1:n.1764+6C>T