Canonical Allele Identifier: CA470056254

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758063-C-T
• MyVariant Identifiers: chr10:g.72517819C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758063C>T , CM000672.2:g.70758063C>T	GRCh38
NC_000010.10:g.72517819C>T , CM000672.1:g.72517819C>T	GRCh37
NC_000010.9:g.72187825C>T	NCBI36
NG_042147.1:g.90261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3039C>T MANE Select	ENSP00000362303.1:p.Val1013=
ENST00000373207.1:c.3039C>T	ENSP00000362303.1:p.Val1013=
ENST00000373208.5:c.3048C>T	ENSP00000362304.1:p.Val1016=
NM_080722.3:c.3039C>T	NP_542453.2:p.Val1013=
NM_139155.2:c.3048C>T	NP_631894.2:p.Val1016=
XM_011539300.1:c.2538C>T	XP_011537602.1:p.Val846=
XM_011539301.1:c.2112C>T	XP_011537603.1:p.Val704=
XM_011539302.1:c.2112C>T	XP_011537604.1:p.Val704=
XM_011539309.1:c.1608C>T	XP_011537611.1:p.Val536=
NM_080722.4:c.3039C>T MANE Select	NP_542453.2:p.Val1013=
NM_139155.3:c.3048C>T	NP_631894.2:p.Val1016=
XM_011539300.2:c.2538C>T	XP_011537602.1:p.Val846=
XM_011539301.2:c.2112C>T	XP_011537603.1:p.Val704=
XM_011539302.2:c.2112C>T	XP_011537604.1:p.Val704=