Canonical Allele Identifier: CA470056263

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758075-C-T
• MyVariant Identifiers: chr10:g.72517831C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758075C>T , CM000672.2:g.70758075C>T	GRCh38
NC_000010.10:g.72517831C>T , CM000672.1:g.72517831C>T	GRCh37
NC_000010.9:g.72187837C>T	NCBI36
NG_042147.1:g.90273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3051C>T MANE Select	ENSP00000362303.1:p.Ser1017=
ENST00000373207.1:c.3051C>T	ENSP00000362303.1:p.Ser1017=
ENST00000373208.5:c.3060C>T	ENSP00000362304.1:p.Ser1020=
NM_080722.3:c.3051C>T	NP_542453.2:p.Ser1017=
NM_139155.2:c.3060C>T	NP_631894.2:p.Ser1020=
XM_011539300.1:c.2550C>T	XP_011537602.1:p.Ser850=
XM_011539301.1:c.2124C>T	XP_011537603.1:p.Ser708=
XM_011539302.1:c.2124C>T	XP_011537604.1:p.Ser708=
XM_011539309.1:c.1620C>T	XP_011537611.1:p.Ser540=
NM_080722.4:c.3051C>T MANE Select	NP_542453.2:p.Ser1017=
NM_139155.3:c.3060C>T	NP_631894.2:p.Ser1020=
XM_011539300.2:c.2550C>T	XP_011537602.1:p.Ser850=
XM_011539301.2:c.2124C>T	XP_011537603.1:p.Ser708=
XM_011539302.2:c.2124C>T	XP_011537604.1:p.Ser708=