Canonical Allele Identifier: CA470056256

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758066-G-A
• MyVariant Identifiers: chr10:g.72517822G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758066G>A , CM000672.2:g.70758066G>A	GRCh38
NC_000010.10:g.72517822G>A , CM000672.1:g.72517822G>A	GRCh37
NC_000010.9:g.72187828G>A	NCBI36
NG_042147.1:g.90264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3042G>A MANE Select	ENSP00000362303.1:p.Gln1014=
ENST00000373207.1:c.3042G>A	ENSP00000362303.1:p.Gln1014=
ENST00000373208.5:c.3051G>A	ENSP00000362304.1:p.Gln1017=
NM_080722.3:c.3042G>A	NP_542453.2:p.Gln1014=
NM_139155.2:c.3051G>A	NP_631894.2:p.Gln1017=
XM_011539300.1:c.2541G>A	XP_011537602.1:p.Gln847=
XM_011539301.1:c.2115G>A	XP_011537603.1:p.Gln705=
XM_011539302.1:c.2115G>A	XP_011537604.1:p.Gln705=
XM_011539309.1:c.1611G>A	XP_011537611.1:p.Gln537=
NM_080722.4:c.3042G>A MANE Select	NP_542453.2:p.Gln1014=
NM_139155.3:c.3051G>A	NP_631894.2:p.Gln1017=
XM_011539300.2:c.2541G>A	XP_011537602.1:p.Gln847=
XM_011539301.2:c.2115G>A	XP_011537603.1:p.Gln705=
XM_011539302.2:c.2115G>A	XP_011537604.1:p.Gln705=