Canonical Allele Identifier: CA2579547170

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs2130936963

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454514G>T , CM000671.2:g.133454514G>T	GRCh38
NC_000009.10:g.135309457G>T	NCBI36
NG_011934.2:g.45176G>T , LRG_544:g.45176G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3144G>T MANE Select	ENSP00000347927.2:p.Val1048=
ENST00000355699.6:c.3144G>T	ENSP00000347927.2:p.Val1048=
ENST00000356589.6:c.3051G>T	ENSP00000348997.2:p.Val1017=
ENST00000371916.5:c.*613G>T	ENSP00000360984.2:n.*613G>T
ENST00000371929.7:c.3144G>T	ENSP00000360997.3:p.Val1048=
ENST00000485925.5:n.1960G>T
NM_139025.4:c.3144G>T , LRG_544t1:c.3144G>T	NP_620594.1:p.Val1048=
NM_139026.4:c.3051G>T	NP_620595.1:p.Val1017=
NM_139027.4:c.3144G>T	NP_620596.2:p.Val1048=
NR_024514.2:n.1979G>T
XM_011518174.1:c.2754G>T	XP_011516476.1:p.Val918=
XM_011518175.1:c.3144G>T	XP_011516477.1:p.Val1048=
XM_011518176.1:c.2160G>T	XP_011516478.1:p.Val720=
XM_011518177.1:c.2154G>T	XP_011516479.1:p.Val718=
XM_011518178.1:c.1809G>T	XP_011516480.1:p.Val603=
XM_011518179.1:c.1809G>T	XP_011516481.1:p.Val603=
XM_011518180.1:c.1410G>T	XP_011516482.1:p.Val470=
XM_011518176.3:c.2160G>T	XP_011516478.1:p.Val720=
XM_011518178.2:c.1809G>T	XP_011516480.1:p.Val603=
XM_017014232.1:c.3132G>T	XP_016869721.1:p.Val1044=
XM_017014233.1:c.2754G>T	XP_016869722.1:p.Val918=
XM_017014234.2:c.2154G>T	XP_016869723.1:p.Val718=
NM_139026.5:c.3051G>T	NP_620595.1:p.Val1017=
NM_139027.5:c.3144G>T	NP_620596.2:p.Val1048=
NM_139025.5:c.3144G>T	NP_620594.1:p.Val1048=
NM_139026.6:c.3051G>T	NP_620595.1:p.Val1017=
NM_139027.6:c.3144G>T MANE Select	NP_620596.2:p.Val1048=
NR_024514.3:n.1981G>T