Canonical Allele Identifier: CA1074867146

Gene: ADAMTS12

Linked Data

• dbSNP Id: rs1744096081
• gnomAD v3: 5-33531398-T-C
• gnomAD v4: 5-33531398-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33531398T>C , CM000667.2:g.33531398T>C	GRCh38
NC_000005.9:g.33531503T>C , CM000667.1:g.33531503T>C	GRCh37
NC_000005.8:g.33567260T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.4606+3435A>G MANE Select	ENSP00000422554.1:n.4606+3435A>G
ENST00000352040.7:c.4351+3435A>G	ENSP00000344847.3:n.4351+3435A>G
ENST00000504830.5:c.4606+3435A>G	ENSP00000422554.1:n.4606+3435A>G
NM_030955.2:c.4606+3435A>G	NP_112217.2:n.4606+3435A>G
XM_011514145.1:c.3835+3435A>G	XP_011512447.1:n.3835+3435A>G
XM_011514147.1:c.2692+3435A>G	XP_011512449.1:n.2692+3435A>G
NM_001324512.1:c.4351+3435A>G	NP_001311441.1:n.4351+3435A>G
NM_030955.3:c.4606+3435A>G	NP_112217.2:n.4606+3435A>G
XM_017009905.1:c.4717+3435A>G	XP_016865394.1:n.4717+3435A>G
XM_017009906.1:c.4225+3435A>G	XP_016865395.1:n.4225+3435A>G
XM_017009907.1:c.3160+3435A>G	XP_016865396.1:n.3160+3435A>G
XM_017009908.1:c.2803+3435A>G	XP_016865397.1:n.2803+3435A>G
XM_017009909.1:c.2791+3435A>G	XP_016865398.1:n.2791+3435A>G
NM_030955.4:c.4606+3435A>G MANE Select	NP_112217.2:n.4606+3435A>G
NM_001324512.2:c.4351+3435A>G	NP_001311441.1:n.4351+3435A>G