Canonical Allele Identifier: CA470056185

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70757988-C-A
• MyVariant Identifiers: chr10:g.72517744C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70757988C>A , CM000672.2:g.70757988C>A	GRCh38
NC_000010.10:g.72517744C>A , CM000672.1:g.72517744C>A	GRCh37
NC_000010.9:g.72187750C>A	NCBI36
NG_042147.1:g.90186C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2964C>A MANE Select	ENSP00000362303.1:p.Ile988=
ENST00000373207.1:c.2964C>A	ENSP00000362303.1:p.Ile988=
ENST00000373208.5:c.2973C>A	ENSP00000362304.1:p.Ile991=
NM_080722.3:c.2964C>A	NP_542453.2:p.Ile988=
NM_139155.2:c.2973C>A	NP_631894.2:p.Ile991=
XM_011539300.1:c.2463C>A	XP_011537602.1:p.Ile821=
XM_011539301.1:c.2037C>A	XP_011537603.1:p.Ile679=
XM_011539302.1:c.2037C>A	XP_011537604.1:p.Ile679=
XM_011539308.1:c.*43C>A	XP_011537610.1:n.*43C>A
XM_011539309.1:c.1533C>A	XP_011537611.1:p.Ile511=
NM_080722.4:c.2964C>A MANE Select	NP_542453.2:p.Ile988=
NM_139155.3:c.2973C>A	NP_631894.2:p.Ile991=
XM_011539300.2:c.2463C>A	XP_011537602.1:p.Ile821=
XM_011539301.2:c.2037C>A	XP_011537603.1:p.Ile679=
XM_011539302.2:c.2037C>A	XP_011537604.1:p.Ile679=
XM_011539308.2:c.*43C>A	XP_011537610.1:n.*43C>A