Canonical Allele Identifier: CA375410455

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454512G>C , CM000671.2:g.133454512G>C	GRCh38
NC_000009.10:g.135309455G>C	NCBI36
NG_011934.2:g.45174G>C , LRG_544:g.45174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3142G>C MANE Select	ENSP00000347927.2:p.Val1048Leu
ENST00000355699.6:c.3142G>C	ENSP00000347927.2:p.Val1048Leu
ENST00000356589.6:c.3049G>C	ENSP00000348997.2:p.Val1017Leu
ENST00000371916.5:c.*611G>C	ENSP00000360984.2:n.*611G>C
ENST00000371929.7:c.3142G>C	ENSP00000360997.3:p.Val1048Leu
ENST00000485925.5:n.1958G>C
NM_139025.4:c.3142G>C , LRG_544t1:c.3142G>C	NP_620594.1:p.Val1048Leu
NM_139026.4:c.3049G>C	NP_620595.1:p.Val1017Leu
NM_139027.4:c.3142G>C	NP_620596.2:p.Val1048Leu
NR_024514.2:n.1977G>C
XM_011518174.1:c.2752G>C	XP_011516476.1:p.Val918Leu
XM_011518175.1:c.3142G>C	XP_011516477.1:p.Val1048Leu
XM_011518176.1:c.2158G>C	XP_011516478.1:p.Val720Leu
XM_011518177.1:c.2152G>C	XP_011516479.1:p.Val718Leu
XM_011518178.1:c.1807G>C	XP_011516480.1:p.Val603Leu
XM_011518179.1:c.1807G>C	XP_011516481.1:p.Val603Leu
XM_011518180.1:c.1408G>C	XP_011516482.1:p.Val470Leu
XM_011518176.3:c.2158G>C	XP_011516478.1:p.Val720Leu
XM_011518178.2:c.1807G>C	XP_011516480.1:p.Val603Leu
XM_017014232.1:c.3130G>C	XP_016869721.1:p.Val1044Leu
XM_017014233.1:c.2752G>C	XP_016869722.1:p.Val918Leu
XM_017014234.2:c.2152G>C	XP_016869723.1:p.Val718Leu
NM_139026.5:c.3049G>C	NP_620595.1:p.Val1017Leu
NM_139027.5:c.3142G>C	NP_620596.2:p.Val1048Leu
NM_139025.5:c.3142G>C	NP_620594.1:p.Val1048Leu
NM_139026.6:c.3049G>C	NP_620595.1:p.Val1017Leu
NM_139027.6:c.3142G>C MANE Select	NP_620596.2:p.Val1048Leu
NR_024514.3:n.1979G>C