Canonical Allele Identifier: CA5540307

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs776091045
• ExAC: 10:72517787 G / C
• gnomAD v2: 10-72517787-G-C
• MyVariant Identifiers: chr10:g.72517787G>C (hg19) ; chr10:g.70758031G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758031G>C , CM000672.2:g.70758031G>C	GRCh38
NC_000010.10:g.72517787G>C , CM000672.1:g.72517787G>C	GRCh37
NC_000010.9:g.72187793G>C	NCBI36
NG_042147.1:g.90229G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3007G>C MANE Select	ENSP00000362303.1:p.Gly1003Arg
ENST00000373207.1:c.3007G>C	ENSP00000362303.1:p.Gly1003Arg
ENST00000373208.5:c.3016G>C	ENSP00000362304.1:p.Gly1006Arg
NM_080722.3:c.3007G>C	NP_542453.2:p.Gly1003Arg
NM_139155.2:c.3016G>C	NP_631894.2:p.Gly1006Arg
XM_011539300.1:c.2506G>C	XP_011537602.1:p.Gly836Arg
XM_011539301.1:c.2080G>C	XP_011537603.1:p.Gly694Arg
XM_011539302.1:c.2080G>C	XP_011537604.1:p.Gly694Arg
XM_011539308.1:c.*86G>C	XP_011537610.1:n.*86G>C
XM_011539309.1:c.1576G>C	XP_011537611.1:p.Gly526Arg
NM_080722.4:c.3007G>C MANE Select	NP_542453.2:p.Gly1003Arg
NM_139155.3:c.3016G>C	NP_631894.2:p.Gly1006Arg
XM_011539300.2:c.2506G>C	XP_011537602.1:p.Gly836Arg
XM_011539301.2:c.2080G>C	XP_011537603.1:p.Gly694Arg
XM_011539302.2:c.2080G>C	XP_011537604.1:p.Gly694Arg
XM_011539308.2:c.*86G>C	XP_011537610.1:n.*86G>C