Canonical Allele Identifier: CA558473742

Gene: ADAMTS12

Linked Data

• dbSNP Id: rs1385881006
• gnomAD v2: 5-33531480-A-G
• gnomAD v3: 5-33531375-A-G
• gnomAD v4: 5-33531375-A-G
• MyVariant Identifiers: chr5:g.33531480A>G (hg19) ; chr5:g.33531375A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33531375A>G , CM000667.2:g.33531375A>G	GRCh38
NC_000005.9:g.33531480A>G , CM000667.1:g.33531480A>G	GRCh37
NC_000005.8:g.33567237A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.4606+3458T>C MANE Select	ENSP00000422554.1:n.4606+3458T>C
ENST00000352040.7:c.4351+3458T>C	ENSP00000344847.3:n.4351+3458T>C
ENST00000504830.5:c.4606+3458T>C	ENSP00000422554.1:n.4606+3458T>C
NM_030955.2:c.4606+3458T>C	NP_112217.2:n.4606+3458T>C
XM_011514145.1:c.3835+3458T>C	XP_011512447.1:n.3835+3458T>C
XM_011514147.1:c.2692+3458T>C	XP_011512449.1:n.2692+3458T>C
NM_001324512.1:c.4351+3458T>C	NP_001311441.1:n.4351+3458T>C
NM_030955.3:c.4606+3458T>C	NP_112217.2:n.4606+3458T>C
XM_017009905.1:c.4717+3458T>C	XP_016865394.1:n.4717+3458T>C
XM_017009906.1:c.4225+3458T>C	XP_016865395.1:n.4225+3458T>C
XM_017009907.1:c.3160+3458T>C	XP_016865396.1:n.3160+3458T>C
XM_017009908.1:c.2803+3458T>C	XP_016865397.1:n.2803+3458T>C
XM_017009909.1:c.2791+3458T>C	XP_016865398.1:n.2791+3458T>C
NM_030955.4:c.4606+3458T>C MANE Select	NP_112217.2:n.4606+3458T>C
NM_001324512.2:c.4351+3458T>C	NP_001311441.1:n.4351+3458T>C