Canonical Allele Identifier: CA558473625

Gene: ADAMTS12

Linked Data

• dbSNP Id: rs1163849550
• gnomAD v2: 5-33530539-G-A
• gnomAD v3: 5-33530434-G-A
• gnomAD v4: 5-33530434-G-A
• MyVariant Identifiers: chr5:g.33530539G>A (hg19) ; chr5:g.33530434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33530434G>A , CM000667.2:g.33530434G>A	GRCh38
NC_000005.9:g.33530539G>A , CM000667.1:g.33530539G>A	GRCh37
NC_000005.8:g.33566296G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.4607-3068C>T MANE Select	ENSP00000422554.1:n.4607-3068C>T
ENST00000352040.7:c.4352-3068C>T	ENSP00000344847.3:n.4352-3068C>T
ENST00000504830.5:c.4607-3068C>T	ENSP00000422554.1:n.4607-3068C>T
NM_030955.2:c.4607-3068C>T	NP_112217.2:n.4607-3068C>T
XM_011514145.1:c.3836-3068C>T	XP_011512447.1:n.3836-3068C>T
XM_011514147.1:c.2693-3068C>T	XP_011512449.1:n.2693-3068C>T
NM_001324512.1:c.4352-3068C>T	NP_001311441.1:n.4352-3068C>T
NM_030955.3:c.4607-3068C>T	NP_112217.2:n.4607-3068C>T
XM_017009905.1:c.4718-3068C>T	XP_016865394.1:n.4718-3068C>T
XM_017009906.1:c.4226-3068C>T	XP_016865395.1:n.4226-3068C>T
XM_017009907.1:c.3161-3068C>T	XP_016865396.1:n.3161-3068C>T
XM_017009908.1:c.2804-3068C>T	XP_016865397.1:n.2804-3068C>T
XM_017009909.1:c.2792-3068C>T	XP_016865398.1:n.2792-3068C>T
NM_030955.4:c.4607-3068C>T MANE Select	NP_112217.2:n.4607-3068C>T
NM_001324512.2:c.4352-3068C>T	NP_001311441.1:n.4352-3068C>T