Canonical Allele Identifier: CA375406160

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133449872A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449872A>C , CM000671.2:g.133449872A>C	GRCh38
NC_000009.10:g.135304814A>C	NCBI36
NG_011934.2:g.40534A>C , LRG_544:g.40534A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2951A>C MANE Select	ENSP00000347927.2:p.Asp984Ala
ENST00000355699.6:c.2951A>C	ENSP00000347927.2:p.Asp984Ala
ENST00000356589.6:c.2858A>C	ENSP00000348997.2:p.Asp953Ala
ENST00000371916.5:c.*420A>C	ENSP00000360984.2:n.*420A>C
ENST00000371929.7:c.2951A>C	ENSP00000360997.3:p.Asp984Ala
ENST00000485925.5:n.1767A>C
ENST00000495234.5:c.*1783A>C	ENSP00000435274.1:n.*1783A>C
NM_139025.4:c.2951A>C , LRG_544t1:c.2951A>C	NP_620594.1:p.Asp984Ala
NM_139026.4:c.2858A>C	NP_620595.1:p.Asp953Ala
NM_139027.4:c.2951A>C	NP_620596.2:p.Asp984Ala
NR_024514.2:n.1786A>C
XM_011518174.1:c.2561A>C	XP_011516476.1:p.Asp854Ala
XM_011518175.1:c.2951A>C	XP_011516477.1:p.Asp984Ala
XM_011518176.1:c.1967A>C	XP_011516478.1:p.Asp656Ala
XM_011518177.1:c.1961A>C	XP_011516479.1:p.Asp654Ala
XM_011518178.1:c.1616A>C	XP_011516480.1:p.Asp539Ala
XM_011518179.1:c.1616A>C	XP_011516481.1:p.Asp539Ala
XM_011518180.1:c.1217A>C	XP_011516482.1:p.Asp406Ala
XM_011518176.3:c.1967A>C	XP_011516478.1:p.Asp656Ala
XM_011518178.2:c.1616A>C	XP_011516480.1:p.Asp539Ala
XM_017014232.1:c.2939A>C	XP_016869721.1:p.Asp980Ala
XM_017014233.1:c.2561A>C	XP_016869722.1:p.Asp854Ala
XM_017014234.2:c.1961A>C	XP_016869723.1:p.Asp654Ala
XR_001746171.1:n.3724A>C
NM_139026.5:c.2858A>C	NP_620595.1:p.Asp953Ala
NM_139027.5:c.2951A>C	NP_620596.2:p.Asp984Ala
NM_139025.5:c.2951A>C	NP_620594.1:p.Asp984Ala
NM_139026.6:c.2858A>C	NP_620595.1:p.Asp953Ala
NM_139027.6:c.2951A>C MANE Select	NP_620596.2:p.Asp984Ala
NR_024514.3:n.1788A>C