Canonical Allele Identifier: CA15389458

Gene: ADAMTS12

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33636489G>A , CM000667.2:g.33636489G>A	GRCh38
NC_000005.9:g.33636594G>A , CM000667.1:g.33636594G>A	GRCh37
NC_000005.8:g.33672351G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.1888+1088C>T MANE Select	ENSP00000422554.1:n.1888+1088C>T
ENST00000352040.7:c.1888+1088C>T	ENSP00000344847.3:n.1888+1088C>T
ENST00000504582.5:n.1568+1088C>T
ENST00000504830.5:c.1888+1088C>T	ENSP00000422554.1:n.1888+1088C>T
NM_030955.2:c.1888+1088C>T	NP_112217.2:n.1888+1088C>T
XM_011514145.1:c.1117+1088C>T	XP_011512447.1:n.1117+1088C>T
XM_011514146.1:c.1888+1088C>T	XP_011512448.1:n.1888+1088C>T
XM_011514147.1:c.-34+1088C>T	XP_011512449.1:n.-34+1088C>T
XM_011514148.1:c.1888+1088C>T	XP_011512450.1:n.1888+1088C>T
XM_011514149.1:c.1888+1088C>T	XP_011512451.1:n.1888+1088C>T
NM_001324512.1:c.1888+1088C>T	NP_001311441.1:n.1888+1088C>T
NM_030955.3:c.1888+1088C>T	NP_112217.2:n.1888+1088C>T
XM_017009905.1:c.1888+1088C>T	XP_016865394.1:n.1888+1088C>T
XM_017009906.1:c.1396+1088C>T	XP_016865395.1:n.1396+1088C>T
XM_017009907.1:c.331+1088C>T	XP_016865396.1:n.331+1088C>T
XM_017009908.1:c.-34+1088C>T	XP_016865397.1:n.-34+1088C>T
NM_030955.4:c.1888+1088C>T MANE Select	NP_112217.2:n.1888+1088C>T
NM_001324512.2:c.1888+1088C>T	NP_001311441.1:n.1888+1088C>T