Canonical Allele Identifier: CA209416137

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs4747096
• MyVariant Identifiers: chr10:g.72518009A>T (hg19) ; chr10:g.70758253A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758253A>T , CM000672.2:g.70758253A>T	GRCh38
NC_000010.10:g.72518009A>T , CM000672.1:g.72518009A>T	GRCh37
NC_000010.9:g.72188015A>T	NCBI36
NG_042147.1:g.90451A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373207.2:c.3146A>T MANE Select	ENSP00000362303.1:p.Glu1049Val
ENST00000373207.1:c.3146A>T	ENSP00000362303.1:p.Glu1049Val
ENST00000373208.5:c.3155A>T	ENSP00000362304.1:p.Glu1052Val
NM_080722.3:c.3146A>T	NP_542453.2:p.Glu1049Val
NM_139155.2:c.3155A>T	NP_631894.2:p.Glu1052Val
XM_011539300.1:c.2645A>T	XP_011537602.1:p.Glu882Val
XM_011539301.1:c.2219A>T	XP_011537603.1:p.Glu740Val
XM_011539302.1:c.2219A>T	XP_011537604.1:p.Glu740Val
XM_011539309.1:c.1715A>T	XP_011537611.1:p.Glu572Val
NM_080722.4:c.3146A>T MANE Select	NP_542453.2:p.Glu1049Val
NM_139155.3:c.3155A>T	NP_631894.2:p.Glu1052Val
XM_011539300.2:c.2645A>T	XP_011537602.1:p.Glu882Val
XM_011539301.2:c.2219A>T	XP_011537603.1:p.Glu740Val
XM_011539302.2:c.2219A>T	XP_011537604.1:p.Glu740Val