Canonical Allele Identifier: CA377108922

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758035-A-G
• MyVariant Identifiers: chr10:g.72517791A>G (hg19) ; chr10:g.70758035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758035A>G , CM000672.2:g.70758035A>G	GRCh38
NC_000010.10:g.72517791A>G , CM000672.1:g.72517791A>G	GRCh37
NC_000010.9:g.72187797A>G	NCBI36
NG_042147.1:g.90233A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3011A>G MANE Select	ENSP00000362303.1:p.His1004Arg
ENST00000373207.1:c.3011A>G	ENSP00000362303.1:p.His1004Arg
ENST00000373208.5:c.3020A>G	ENSP00000362304.1:p.His1007Arg
NM_080722.3:c.3011A>G	NP_542453.2:p.His1004Arg
NM_139155.2:c.3020A>G	NP_631894.2:p.His1007Arg
XM_011539300.1:c.2510A>G	XP_011537602.1:p.His837Arg
XM_011539301.1:c.2084A>G	XP_011537603.1:p.His695Arg
XM_011539302.1:c.2084A>G	XP_011537604.1:p.His695Arg
XM_011539309.1:c.1580A>G	XP_011537611.1:p.His527Arg
NM_080722.4:c.3011A>G MANE Select	NP_542453.2:p.His1004Arg
NM_139155.3:c.3020A>G	NP_631894.2:p.His1007Arg
XM_011539300.2:c.2510A>G	XP_011537602.1:p.His837Arg
XM_011539301.2:c.2084A>G	XP_011537603.1:p.His695Arg
XM_011539302.2:c.2084A>G	XP_011537604.1:p.His695Arg
XM_011539308.2:c.*90A>G	XP_011537610.1:n.*90A>G