Canonical Allele Identifier: CA377108924

Gene: ADAMTS14

Linked Data

• MyVariant Identifiers: chr10:g.72517792T>A (hg19) ; chr10:g.70758036T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758036T>A , CM000672.2:g.70758036T>A	GRCh38
NC_000010.10:g.72517792T>A , CM000672.1:g.72517792T>A	GRCh37
NC_000010.9:g.72187798T>A	NCBI36
NG_042147.1:g.90234T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3012T>A MANE Select	ENSP00000362303.1:p.His1004Gln
ENST00000373207.1:c.3012T>A	ENSP00000362303.1:p.His1004Gln
ENST00000373208.5:c.3021T>A	ENSP00000362304.1:p.His1007Gln
NM_080722.3:c.3012T>A	NP_542453.2:p.His1004Gln
NM_139155.2:c.3021T>A	NP_631894.2:p.His1007Gln
XM_011539300.1:c.2511T>A	XP_011537602.1:p.His837Gln
XM_011539301.1:c.2085T>A	XP_011537603.1:p.His695Gln
XM_011539302.1:c.2085T>A	XP_011537604.1:p.His695Gln
XM_011539309.1:c.1581T>A	XP_011537611.1:p.His527Gln
NM_080722.4:c.3012T>A MANE Select	NP_542453.2:p.His1004Gln
NM_139155.3:c.3021T>A	NP_631894.2:p.His1007Gln
XM_011539300.2:c.2511T>A	XP_011537602.1:p.His837Gln
XM_011539301.2:c.2085T>A	XP_011537603.1:p.His695Gln
XM_011539302.2:c.2085T>A	XP_011537604.1:p.His695Gln
XM_011539308.2:c.*91T>A	XP_011537610.1:n.*91T>A