Canonical Allele Identifier: CA117271067

Gene: ADAMTS12

Linked Data

• dbSNP Id: rs1050728546
• gnomAD v3: 5-33879599-C-A
• gnomAD v4: 5-33879599-C-A
• MyVariant Identifiers: chr5:g.33879704C>A (hg19) ; chr5:g.33879599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33879599C>A , CM000667.2:g.33879599C>A	GRCh38
NC_000005.9:g.33879704C>A , CM000667.1:g.33879704C>A	GRCh37
NC_000005.8:g.33915461C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000504830.6:c.489+1520G>T MANE Select	ENSP00000422554.1:n.489+1520G>T
ENST00000352040.7:c.489+1520G>T	ENSP00000344847.3:n.489+1520G>T
ENST00000504830.5:c.489+1520G>T	ENSP00000422554.1:n.489+1520G>T
ENST00000515401.1:c.489+1520G>T	ENSP00000421638.1:n.489+1520G>T
NM_030955.2:c.489+1520G>T	NP_112217.2:n.489+1520G>T
XM_011514146.1:c.489+1520G>T	XP_011512448.1:n.489+1520G>T
XM_011514148.1:c.489+1520G>T	XP_011512450.1:n.489+1520G>T
XM_011514149.1:c.489+1520G>T	XP_011512451.1:n.489+1520G>T
NM_001324511.1:c.489+1520G>T	NP_001311440.1:n.489+1520G>T
NM_001324512.1:c.489+1520G>T	NP_001311441.1:n.489+1520G>T
NM_030955.3:c.489+1520G>T	NP_112217.2:n.489+1520G>T
XM_017009905.1:c.489+1520G>T	XP_016865394.1:n.489+1520G>T
NM_030955.4:c.489+1520G>T MANE Select	NP_112217.2:n.489+1520G>T
NM_001324511.2:c.489+1520G>T	NP_001311440.1:n.489+1520G>T
NM_001324512.2:c.489+1520G>T	NP_001311441.1:n.489+1520G>T