Canonical Allele Identifier: CA375415253

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456153G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456153G>C , CM000671.2:g.133456153G>C	GRCh38
NC_000009.10:g.135311096G>C	NCBI36
NG_011934.2:g.46815G>C , LRG_544:g.46815G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3485G>C MANE Select	ENSP00000347927.2:p.Gly1162Ala
ENST00000355699.6:c.3485G>C	ENSP00000347927.2:p.Gly1162Ala
ENST00000356589.6:c.3392G>C	ENSP00000348997.2:p.Gly1131Ala
ENST00000371910.1:c.41G>C	ENSP00000360978.1:p.Gly14Ala
ENST00000371916.5:c.*954G>C	ENSP00000360984.2:n.*954G>C
ENST00000371929.7:c.3653G>C	ENSP00000360997.3:p.Gly1218Ala
ENST00000485925.5:n.2301G>C
NM_139025.4:c.3653G>C , LRG_544t1:c.3653G>C	NP_620594.1:p.Gly1218Ala
NM_139026.4:c.3392G>C	NP_620595.1:p.Gly1131Ala
NM_139027.4:c.3485G>C	NP_620596.2:p.Gly1162Ala
NR_024514.2:n.2320G>C
XM_011518174.1:c.3263G>C	XP_011516476.1:p.Gly1088Ala
XM_011518175.1:c.*60G>C	XP_011516477.1:n.*60G>C
XM_011518176.1:c.2669G>C	XP_011516478.1:p.Gly890Ala
XM_011518177.1:c.2663G>C	XP_011516479.1:p.Gly888Ala
XM_011518178.1:c.2318G>C	XP_011516480.1:p.Gly773Ala
XM_011518179.1:c.2318G>C	XP_011516481.1:p.Gly773Ala
XM_011518180.1:c.1919G>C	XP_011516482.1:p.Gly640Ala
XM_011518176.3:c.2669G>C	XP_011516478.1:p.Gly890Ala
XM_011518178.2:c.2318G>C	XP_011516480.1:p.Gly773Ala
XM_017014232.1:c.3641G>C	XP_016869721.1:p.Gly1214Ala
XM_017014233.1:c.3263G>C	XP_016869722.1:p.Gly1088Ala
XM_017014234.2:c.2663G>C	XP_016869723.1:p.Gly888Ala
NM_139026.5:c.3392G>C	NP_620595.1:p.Gly1131Ala
NM_139027.5:c.3485G>C	NP_620596.2:p.Gly1162Ala
NM_139025.5:c.3653G>C	NP_620594.1:p.Gly1218Ala
NM_139026.6:c.3392G>C	NP_620595.1:p.Gly1131Ala
NM_139027.6:c.3485G>C MANE Select	NP_620596.2:p.Gly1162Ala
NR_024514.3:n.2322G>C