Canonical Allele Identifier: CA470056300

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758182-C-T
• MyVariant Identifiers: chr10:g.72517938C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3075C>T MANE Select	ENSP00000362303.1:p.His1025=
ENST00000373207.1:c.3075C>T	ENSP00000362303.1:p.His1025=
ENST00000373208.5:c.3084C>T	ENSP00000362304.1:p.His1028=
NM_080722.3:c.3075C>T	NP_542453.2:p.His1025=
NM_139155.2:c.3084C>T	NP_631894.2:p.His1028=
XM_011539300.1:c.2574C>T	XP_011537602.1:p.His858=
XM_011539301.1:c.2148C>T	XP_011537603.1:p.His716=
XM_011539302.1:c.2148C>T	XP_011537604.1:p.His716=
XM_011539309.1:c.1644C>T	XP_011537611.1:p.His548=
NM_080722.4:c.3075C>T MANE Select	NP_542453.2:p.His1025=
NM_139155.3:c.3084C>T	NP_631894.2:p.His1028=
XM_011539300.2:c.2574C>T	XP_011537602.1:p.His858=
XM_011539301.2:c.2148C>T	XP_011537603.1:p.His716=
XM_011539302.2:c.2148C>T	XP_011537604.1:p.His716=