Canonical Allele Identifier: CA375410278

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454488G>C , CM000671.2:g.133454488G>C	GRCh38
NC_000009.10:g.135309431G>C	NCBI36
NG_011934.2:g.45150G>C , LRG_544:g.45150G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3118G>C MANE Select	ENSP00000347927.2:p.Val1040Leu
ENST00000355699.6:c.3118G>C	ENSP00000347927.2:p.Val1040Leu
ENST00000356589.6:c.3025G>C	ENSP00000348997.2:p.Val1009Leu
ENST00000371916.5:c.*587G>C	ENSP00000360984.2:n.*587G>C
ENST00000371929.7:c.3118G>C	ENSP00000360997.3:p.Val1040Leu
ENST00000485925.5:n.1934G>C
NM_139025.4:c.3118G>C , LRG_544t1:c.3118G>C	NP_620594.1:p.Val1040Leu
NM_139026.4:c.3025G>C	NP_620595.1:p.Val1009Leu
NM_139027.4:c.3118G>C	NP_620596.2:p.Val1040Leu
NR_024514.2:n.1953G>C
XM_011518174.1:c.2728G>C	XP_011516476.1:p.Val910Leu
XM_011518175.1:c.3118G>C	XP_011516477.1:p.Val1040Leu
XM_011518176.1:c.2134G>C	XP_011516478.1:p.Val712Leu
XM_011518177.1:c.2128G>C	XP_011516479.1:p.Val710Leu
XM_011518178.1:c.1783G>C	XP_011516480.1:p.Val595Leu
XM_011518179.1:c.1783G>C	XP_011516481.1:p.Val595Leu
XM_011518180.1:c.1384G>C	XP_011516482.1:p.Val462Leu
XM_011518176.3:c.2134G>C	XP_011516478.1:p.Val712Leu
XM_011518178.2:c.1783G>C	XP_011516480.1:p.Val595Leu
XM_017014232.1:c.3106G>C	XP_016869721.1:p.Val1036Leu
XM_017014233.1:c.2728G>C	XP_016869722.1:p.Val910Leu
XM_017014234.2:c.2128G>C	XP_016869723.1:p.Val710Leu
NM_139026.5:c.3025G>C	NP_620595.1:p.Val1009Leu
NM_139027.5:c.3118G>C	NP_620596.2:p.Val1040Leu
NM_139025.5:c.3118G>C	NP_620594.1:p.Val1040Leu
NM_139026.6:c.3025G>C	NP_620595.1:p.Val1009Leu
NM_139027.6:c.3118G>C MANE Select	NP_620596.2:p.Val1040Leu
NR_024514.3:n.1955G>C