Canonical Allele Identifier: CA2958317475
Community Standard Title: NM_139027.6(ADAMTS13):c.1437G>C (p.Gly479=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133437750G>C , CM000671.2:g.133437750G>C GRCh38
NC_000009.10:g.135292691G>C NCBI36
NG_011934.2:g.28412G>C , LRG_544:g.28412G>C

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1437G>C MANE Select NP_620596.2:p.Gly479=
ENST00000355699.7:c.1437G>C MANE Select ENSP00000347927.2:p.Gly479=
NM_139025.4:c.1437G>C , LRG_544t1:c.1437G>C NP_620594.1:p.Gly479=
NM_139025.5:c.1437G>C NP_620594.1:p.Gly479=
NM_139026.4:c.1344G>C NP_620595.1:p.Gly448=
NM_139026.5:c.1344G>C NP_620595.1:p.Gly448=
NM_139026.6:c.1344G>C NP_620595.1:p.Gly448=
NM_139027.4:c.1437G>C NP_620596.2:p.Gly479=
NM_139027.5:c.1437G>C NP_620596.2:p.Gly479=
NR_024514.2:n.993-1616G>C
NR_024514.3:n.995-1616G>C
ENST00000355699.6:c.1437G>C ENSP00000347927.2:p.Gly479=
ENST00000356589.6:c.1344G>C ENSP00000348997.2:p.Gly448=
ENST00000371916.5:c.693G>C ENSP00000360984.2:p.Gly231=
ENST00000371929.7:c.1437G>C ENSP00000360997.3:p.Gly479=
ENST00000474918.1:c.*241G>C ENSP00000435305.1:n.*241G>C
ENST00000485925.5:n.974-1616G>C
ENST00000495234.5:c.*721G>C ENSP00000435274.1:n.*721G>C
XM_011518174.1:c.1047G>C XP_011516476.1:p.Gly349=
XM_011518175.1:c.1437G>C XP_011516477.1:p.Gly479=
XM_011518176.1:c.453G>C XP_011516478.1:p.Gly151=
XM_011518176.3:c.453G>C XP_011516478.1:p.Gly151=
XM_011518177.1:c.447G>C XP_011516479.1:p.Gly149=
XM_011518178.1:c.102G>C XP_011516480.1:p.Gly34=
XM_011518178.2:c.102G>C XP_011516480.1:p.Gly34=
XM_011518179.1:c.223G>C XP_011516481.1:p.Gly75Arg
XM_011518180.1:c.687-7113G>C XP_011516482.1:n.687-7113G>C
XM_017014232.1:c.1425G>C XP_016869721.1:p.Gly475=
XM_017014233.1:c.1047G>C XP_016869722.1:p.Gly349=
XM_017014234.2:c.447G>C XP_016869723.1:p.Gly149=
XM_017014235.1:c.1437G>C XP_016869724.1:p.Gly479=
XR_001746171.1:n.2662G>C