Canonical Allele Identifier: CA1074867136

Gene: ADAMTS12

Linked Data

• dbSNP Id: rs1744093463
• gnomAD v3: 5-33531366-G-A
• gnomAD v4: 5-33531366-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33531366G>A , CM000667.2:g.33531366G>A	GRCh38
NC_000005.9:g.33531471G>A , CM000667.1:g.33531471G>A	GRCh37
NC_000005.8:g.33567228G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.4606+3467C>T MANE Select	ENSP00000422554.1:n.4606+3467C>T
ENST00000352040.7:c.4351+3467C>T	ENSP00000344847.3:n.4351+3467C>T
ENST00000504830.5:c.4606+3467C>T	ENSP00000422554.1:n.4606+3467C>T
NM_030955.2:c.4606+3467C>T	NP_112217.2:n.4606+3467C>T
XM_011514145.1:c.3835+3467C>T	XP_011512447.1:n.3835+3467C>T
XM_011514147.1:c.2692+3467C>T	XP_011512449.1:n.2692+3467C>T
NM_001324512.1:c.4351+3467C>T	NP_001311441.1:n.4351+3467C>T
NM_030955.3:c.4606+3467C>T	NP_112217.2:n.4606+3467C>T
XM_017009905.1:c.4717+3467C>T	XP_016865394.1:n.4717+3467C>T
XM_017009906.1:c.4225+3467C>T	XP_016865395.1:n.4225+3467C>T
XM_017009907.1:c.3160+3467C>T	XP_016865396.1:n.3160+3467C>T
XM_017009908.1:c.2803+3467C>T	XP_016865397.1:n.2803+3467C>T
XM_017009909.1:c.2791+3467C>T	XP_016865398.1:n.2791+3467C>T
NM_030955.4:c.4606+3467C>T MANE Select	NP_112217.2:n.4606+3467C>T
NM_001324512.2:c.4351+3467C>T	NP_001311441.1:n.4351+3467C>T