Canonical Allele Identifier: CA1129745094

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1842621892
• gnomAD v3: 9-133454469-T-C
• gnomAD v4: 9-133454469-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454469T>C , CM000671.2:g.133454469T>C	GRCh38
NC_000009.10:g.135309412T>C	NCBI36
NG_011934.2:g.45131T>C , LRG_544:g.45131T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.3099T>C MANE Select	ENSP00000347927.2:p.Ala1033=
ENST00000355699.6:c.3099T>C	ENSP00000347927.2:p.Ala1033=
ENST00000356589.6:c.3006T>C	ENSP00000348997.2:p.Ala1002=
ENST00000371916.5:c.*568T>C	ENSP00000360984.2:n.*568T>C
ENST00000371929.7:c.3099T>C	ENSP00000360997.3:p.Ala1033=
ENST00000485925.5:n.1915T>C
NM_139025.4:c.3099T>C , LRG_544t1:c.3099T>C	NP_620594.1:p.Ala1033=
NM_139026.4:c.3006T>C	NP_620595.1:p.Ala1002=
NM_139027.4:c.3099T>C	NP_620596.2:p.Ala1033=
NR_024514.2:n.1934T>C
XM_011518174.1:c.2709T>C	XP_011516476.1:p.Ala903=
XM_011518175.1:c.3099T>C	XP_011516477.1:p.Ala1033=
XM_011518176.1:c.2115T>C	XP_011516478.1:p.Ala705=
XM_011518177.1:c.2109T>C	XP_011516479.1:p.Ala703=
XM_011518178.1:c.1764T>C	XP_011516480.1:p.Ala588=
XM_011518179.1:c.1764T>C	XP_011516481.1:p.Ala588=
XM_011518180.1:c.1365T>C	XP_011516482.1:p.Ala455=
XM_011518176.3:c.2115T>C	XP_011516478.1:p.Ala705=
XM_011518178.2:c.1764T>C	XP_011516480.1:p.Ala588=
XM_017014232.1:c.3087T>C	XP_016869721.1:p.Ala1029=
XM_017014233.1:c.2709T>C	XP_016869722.1:p.Ala903=
XM_017014234.2:c.2109T>C	XP_016869723.1:p.Ala703=
NM_139026.5:c.3006T>C	NP_620595.1:p.Ala1002=
NM_139027.5:c.3099T>C	NP_620596.2:p.Ala1033=
NM_139025.5:c.3099T>C	NP_620594.1:p.Ala1033=
NM_139026.6:c.3006T>C	NP_620595.1:p.Ala1002=
NM_139027.6:c.3099T>C MANE Select	NP_620596.2:p.Ala1033=
NR_024514.3:n.1936T>C