Canonical Allele Identifier: CA470056211

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs1842519794
• MyVariant Identifiers: chr10:g.72517771C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758015C>T , CM000672.2:g.70758015C>T	GRCh38
NC_000010.10:g.72517771C>T , CM000672.1:g.72517771C>T	GRCh37
NC_000010.9:g.72187777C>T	NCBI36
NG_042147.1:g.90213C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2991C>T MANE Select	ENSP00000362303.1:p.Thr997=
ENST00000373207.1:c.2991C>T	ENSP00000362303.1:p.Thr997=
ENST00000373208.5:c.3000C>T	ENSP00000362304.1:p.Thr1000=
NM_080722.3:c.2991C>T	NP_542453.2:p.Thr997=
NM_139155.2:c.3000C>T	NP_631894.2:p.Thr1000=
XM_011539300.1:c.2490C>T	XP_011537602.1:p.Thr830=
XM_011539301.1:c.2064C>T	XP_011537603.1:p.Thr688=
XM_011539302.1:c.2064C>T	XP_011537604.1:p.Thr688=
XM_011539308.1:c.*70C>T	XP_011537610.1:n.*70C>T
XM_011539309.1:c.1560C>T	XP_011537611.1:p.Thr520=
NM_080722.4:c.2991C>T MANE Select	NP_542453.2:p.Thr997=
NM_139155.3:c.3000C>T	NP_631894.2:p.Thr1000=
XM_011539300.2:c.2490C>T	XP_011537602.1:p.Thr830=
XM_011539301.2:c.2064C>T	XP_011537603.1:p.Thr688=
XM_011539302.2:c.2064C>T	XP_011537604.1:p.Thr688=
XM_011539308.2:c.*70C>T	XP_011537610.1:n.*70C>T