Canonical Allele Identifier: CA200880169
Community Standard Title: NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133424379C>T , CM000671.2:g.133424379C>T GRCh38
NC_000009.10:g.135279320C>T NCBI36
NG_011934.2:g.15041C>T , LRG_544:g.15041C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.231C>T MANE Select NP_620596.2:p.Gly77=
ENST00000355699.7:c.231C>T MANE Select ENSP00000347927.2:p.Gly77=
NM_139025.4:c.231C>T , LRG_544t1:c.231C>T NP_620594.1:p.Gly77=
NM_139025.5:c.231C>T NP_620594.1:p.Gly77=
NM_139026.4:c.231C>T NP_620595.1:p.Gly77=
NM_139026.5:c.231C>T NP_620595.1:p.Gly77=
NM_139026.6:c.231C>T NP_620595.1:p.Gly77=
NM_139027.4:c.231C>T NP_620596.2:p.Gly77=
NM_139027.5:c.231C>T NP_620596.2:p.Gly77=
NR_024514.2:n.432C>T
NR_024514.3:n.434C>T
ENST00000355699.6:c.231C>T ENSP00000347927.2:p.Gly77=
ENST00000356589.6:c.231C>T ENSP00000348997.2:p.Gly77=
ENST00000371911.7:c.231C>T ENSP00000360979.3:p.Gly77=
ENST00000371916.5:c.-514C>T ENSP00000360984.2:n.-514C>T
ENST00000371929.7:c.231C>T ENSP00000360997.3:p.Gly77=
ENST00000474918.1:c.231C>T ENSP00000435305.1:p.Gly77=
ENST00000485925.5:n.413C>T
ENST00000495234.5:c.231C>T ENSP00000435274.1:p.Gly77=
XM_011518174.1:c.-160C>T XP_011516476.1:n.-160C>T
XM_011518175.1:c.231C>T XP_011516477.1:p.Gly77=
XM_011518180.1:c.231C>T XP_011516482.1:p.Gly77=
XM_017014232.1:c.219C>T XP_016869721.1:p.Gly73=
XM_017014233.1:c.-160C>T XP_016869722.1:n.-160C>T
XM_017014235.1:c.231C>T XP_016869724.1:p.Gly77=
XR_001746171.1:n.1456C>T