Canonical Allele Identifier: CA377108862

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs201862024
• MyVariant Identifiers: chr10:g.72517763T>G (hg19) ; chr10:g.70758007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758007T>G , CM000672.2:g.70758007T>G	GRCh38
NC_000010.10:g.72517763T>G , CM000672.1:g.72517763T>G	GRCh37
NC_000010.9:g.72187769T>G	NCBI36
NG_042147.1:g.90205T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2983T>G MANE Select	ENSP00000362303.1:p.Cys995Gly
ENST00000373207.1:c.2983T>G	ENSP00000362303.1:p.Cys995Gly
ENST00000373208.5:c.2992T>G	ENSP00000362304.1:p.Cys998Gly
NM_080722.3:c.2983T>G	NP_542453.2:p.Cys995Gly
NM_139155.2:c.2992T>G	NP_631894.2:p.Cys998Gly
XM_011539300.1:c.2482T>G	XP_011537602.1:p.Cys828Gly
XM_011539301.1:c.2056T>G	XP_011537603.1:p.Cys686Gly
XM_011539302.1:c.2056T>G	XP_011537604.1:p.Cys686Gly
XM_011539308.1:c.*62T>G	XP_011537610.1:n.*62T>G
XM_011539309.1:c.1552T>G	XP_011537611.1:p.Cys518Gly
NM_080722.4:c.2983T>G MANE Select	NP_542453.2:p.Cys995Gly
NM_139155.3:c.2992T>G	NP_631894.2:p.Cys998Gly
XM_011539300.2:c.2482T>G	XP_011537602.1:p.Cys828Gly
XM_011539301.2:c.2056T>G	XP_011537603.1:p.Cys686Gly
XM_011539302.2:c.2056T>G	XP_011537604.1:p.Cys686Gly
XM_011539308.2:c.*62T>G	XP_011537610.1:n.*62T>G