Canonical Allele Identifier: CA15367253
Gene: ADAMTS12 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs256792

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33531540C>T , CM000667.2:g.33531540C>T GRCh38
NC_000005.9:g.33531645C>T , CM000667.1:g.33531645C>T GRCh37
NC_000005.8:g.33567402C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_030955.2:c.4606+3293G>A VV NP_112217.2:p.=
XM_011514145.1:c.3835+3293G>A XP_011512447.1:p.=
XM_011514147.1:c.2692+3293G>A XP_011512449.1:p.=
NM_001324512.1:c.4351+3293G>A VV NP_001311441.1:p.=
NM_030955.3:c.4606+3293G>A VV NP_112217.2:p.=
XM_017009905.1:c.4717+3293G>A XP_016865394.1:p.=
XM_017009906.1:c.4225+3293G>A XP_016865395.1:p.=
XM_017009907.1:c.3160+3293G>A XP_016865396.1:p.=
XM_017009908.1:c.2803+3293G>A XP_016865397.1:p.=
XM_017009909.1:c.2791+3293G>A XP_016865398.1:p.=
NM_030955.4:c.4606+3293G>A VV MANE Preferred NP_112217.2:p.=
ENST00000352040.7:c.4351+3293G>A ENSP00000344847.3:p.=
ENST00000504830.5:c.4606+3293G>A ENSP00000422554.1:p.=