Canonical Allele Identifier: CA200880018

Gene: ADAMTS13

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133424254T>C , CM000671.2:g.133424254T>C	GRCh38
NC_000009.10:g.135279195T>C	NCBI36
NG_011934.2:g.14916T>C , LRG_544:g.14916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.173-67T>C MANE Select	ENSP00000347927.2:n.173-67T>C
ENST00000355699.6:c.173-67T>C	ENSP00000347927.2:n.173-67T>C
ENST00000356589.6:c.173-67T>C	ENSP00000348997.2:n.173-67T>C
ENST00000371911.7:c.173-67T>C	ENSP00000360979.3:n.173-67T>C
ENST00000371916.5:c.-572-67T>C	ENSP00000360984.2:n.-572-67T>C
ENST00000371929.7:c.173-67T>C	ENSP00000360997.3:n.173-67T>C
ENST00000474918.1:c.173-67T>C	ENSP00000435305.1:n.173-67T>C
ENST00000485925.5:n.355-67T>C
ENST00000495234.5:c.173-67T>C	ENSP00000435274.1:n.173-67T>C
NM_139025.4:c.173-67T>C , LRG_544t1:c.173-67T>C	NP_620594.1:n.173-67T>C
NM_139026.4:c.173-67T>C	NP_620595.1:n.173-67T>C
NM_139027.4:c.173-67T>C	NP_620596.2:n.173-67T>C
NR_024514.2:n.374-67T>C
XM_011518174.1:c.-218-67T>C	XP_011516476.1:n.-218-67T>C
XM_011518175.1:c.173-67T>C	XP_011516477.1:n.173-67T>C
XM_011518180.1:c.173-67T>C	XP_011516482.1:n.173-67T>C
XM_017014232.1:c.161-67T>C	XP_016869721.1:n.161-67T>C
XM_017014233.1:c.-218-67T>C	XP_016869722.1:n.-218-67T>C
XM_017014235.1:c.173-67T>C	XP_016869724.1:n.173-67T>C
XR_001746171.1:n.1398-67T>C
NM_139026.5:c.173-67T>C	NP_620595.1:n.173-67T>C
NM_139027.5:c.173-67T>C	NP_620596.2:n.173-67T>C
NM_139025.5:c.173-67T>C	NP_620594.1:n.173-67T>C
NM_139026.6:c.173-67T>C	NP_620595.1:n.173-67T>C
NM_139027.6:c.173-67T>C MANE Select	NP_620596.2:n.173-67T>C
NR_024514.3:n.376-67T>C