Canonical Allele Identifier: CA1537998748
Gene: ADAMTS12 HGNC NCBI

Linked Data

dbSNP Id: rs1744095824

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33531394A>G , CM000667.2:g.33531394A>G GRCh38
NC_000005.9:g.33531499A>G , CM000667.1:g.33531499A>G GRCh37
NC_000005.8:g.33567256A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000504830.6:c.4606+3439T>C MANE Select ENSP00000422554.1:n.4606+3439T>C
ENST00000352040.7:c.4351+3439T>C ENSP00000344847.3:n.4351+3439T>C
ENST00000504830.5:c.4606+3439T>C ENSP00000422554.1:n.4606+3439T>C
NM_030955.2:c.4606+3439T>C NP_112217.2:n.4606+3439T>C
XM_011514145.1:c.3835+3439T>C XP_011512447.1:n.3835+3439T>C
XM_011514147.1:c.2692+3439T>C XP_011512449.1:n.2692+3439T>C
NM_001324512.1:c.4351+3439T>C NP_001311441.1:n.4351+3439T>C
NM_030955.3:c.4606+3439T>C NP_112217.2:n.4606+3439T>C
XM_017009905.1:c.4717+3439T>C XP_016865394.1:n.4717+3439T>C
XM_017009906.1:c.4225+3439T>C XP_016865395.1:n.4225+3439T>C
XM_017009907.1:c.3160+3439T>C XP_016865396.1:n.3160+3439T>C
XM_017009908.1:c.2803+3439T>C XP_016865397.1:n.2803+3439T>C
XM_017009909.1:c.2791+3439T>C XP_016865398.1:n.2791+3439T>C
NM_030955.4:c.4606+3439T>C MANE Select NP_112217.2:n.4606+3439T>C
NM_001324512.2:c.4351+3439T>C NP_001311441.1:n.4351+3439T>C