Canonical Allele Identifier: CA116887498

Gene: ADAMTS12

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33658242T>C , CM000667.2:g.33658242T>C	GRCh38
NC_000005.9:g.33658347T>C , CM000667.1:g.33658347T>C	GRCh37
NC_000005.8:g.33694104T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030955.4:c.1132A>G MANE Select	NP_112217.2:p.Ile378Val
ENST00000504830.6:c.1132A>G MANE Select	ENSP00000422554.1:p.Ile378Val
NM_001324512.1:c.1132A>G	NP_001311441.1:p.Ile378Val
NM_001324512.2:c.1132A>G	NP_001311441.1:p.Ile378Val
NM_030955.2:c.1132A>G	NP_112217.2:p.Ile378Val
NM_030955.3:c.1132A>G	NP_112217.2:p.Ile378Val
ENST00000352040.7:c.1132A>G	ENSP00000344847.3:p.Ile378Val
ENST00000504582.5:n.812A>G
ENST00000504830.5:c.1132A>G	ENSP00000422554.1:p.Ile378Val
XM_011514145.1:c.361A>G	XP_011512447.1:p.Ile121Val
XM_011514146.1:c.1132A>G	XP_011512448.1:p.Ile378Val
XM_011514148.1:c.1132A>G	XP_011512450.1:p.Ile378Val
XM_011514149.1:c.1132A>G	XP_011512451.1:p.Ile378Val
XM_017009905.1:c.1132A>G	XP_016865394.1:p.Ile378Val
XM_017009906.1:c.640A>G	XP_016865395.1:p.Ile214Val