Canonical Allele Identifier: CA377109068

Gene: ADAMTS14

Linked Data

• MyVariant Identifiers: chr10:g.72517938C>A (hg19) ; chr10:g.70758182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758182C>A , CM000672.2:g.70758182C>A	GRCh38
NC_000010.10:g.72517938C>A , CM000672.1:g.72517938C>A	GRCh37
NC_000010.9:g.72187944C>A	NCBI36
NG_042147.1:g.90380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3075C>A MANE Select	ENSP00000362303.1:p.His1025Gln
ENST00000373207.1:c.3075C>A	ENSP00000362303.1:p.His1025Gln
ENST00000373208.5:c.3084C>A	ENSP00000362304.1:p.His1028Gln
NM_080722.3:c.3075C>A	NP_542453.2:p.His1025Gln
NM_139155.2:c.3084C>A	NP_631894.2:p.His1028Gln
XM_011539300.1:c.2574C>A	XP_011537602.1:p.His858Gln
XM_011539301.1:c.2148C>A	XP_011537603.1:p.His716Gln
XM_011539302.1:c.2148C>A	XP_011537604.1:p.His716Gln
XM_011539309.1:c.1644C>A	XP_011537611.1:p.His548Gln
NM_080722.4:c.3075C>A MANE Select	NP_542453.2:p.His1025Gln
NM_139155.3:c.3084C>A	NP_631894.2:p.His1028Gln
XM_011539300.2:c.2574C>A	XP_011537602.1:p.His858Gln
XM_011539301.2:c.2148C>A	XP_011537603.1:p.His716Gln
XM_011539302.2:c.2148C>A	XP_011537604.1:p.His716Gln