Canonical Allele Identifier: CA1537997206
Gene: ADAMTS12 HGNC NCBI

Linked Data

dbSNP Id: rs1744037942

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33530351G>C , CM000667.2:g.33530351G>C GRCh38
NC_000005.9:g.33530456G>C , CM000667.1:g.33530456G>C GRCh37
NC_000005.8:g.33566213G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504830.6:c.4607-2985C>G MANE Select ENSP00000422554.1:n.4607-2985C>G
ENST00000352040.7:c.4352-2985C>G ENSP00000344847.3:n.4352-2985C>G
ENST00000504830.5:c.4607-2985C>G ENSP00000422554.1:n.4607-2985C>G
NM_030955.2:c.4607-2985C>G NP_112217.2:n.4607-2985C>G
XM_011514145.1:c.3836-2985C>G XP_011512447.1:n.3836-2985C>G
XM_011514147.1:c.2693-2985C>G XP_011512449.1:n.2693-2985C>G
NM_001324512.1:c.4352-2985C>G NP_001311441.1:n.4352-2985C>G
NM_030955.3:c.4607-2985C>G NP_112217.2:n.4607-2985C>G
XM_017009905.1:c.4718-2985C>G XP_016865394.1:n.4718-2985C>G
XM_017009906.1:c.4226-2985C>G XP_016865395.1:n.4226-2985C>G
XM_017009907.1:c.3161-2985C>G XP_016865396.1:n.3161-2985C>G
XM_017009908.1:c.2804-2985C>G XP_016865397.1:n.2804-2985C>G
XM_017009909.1:c.2792-2985C>G XP_016865398.1:n.2792-2985C>G
NM_030955.4:c.4607-2985C>G MANE Select NP_112217.2:n.4607-2985C>G
NM_001324512.2:c.4352-2985C>G NP_001311441.1:n.4352-2985C>G