Canonical Allele Identifier: CA377108932

Gene: ADAMTS14

Linked Data

• MyVariant Identifiers: chr10:g.72517795C>G (hg19) ; chr10:g.70758039C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758039C>G , CM000672.2:g.70758039C>G	GRCh38
NC_000010.10:g.72517795C>G , CM000672.1:g.72517795C>G	GRCh37
NC_000010.9:g.72187801C>G	NCBI36
NG_042147.1:g.90237C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3015C>G MANE Select	ENSP00000362303.1:p.Cys1005Trp
ENST00000373207.1:c.3015C>G	ENSP00000362303.1:p.Cys1005Trp
ENST00000373208.5:c.3024C>G	ENSP00000362304.1:p.Cys1008Trp
NM_080722.3:c.3015C>G	NP_542453.2:p.Cys1005Trp
NM_139155.2:c.3024C>G	NP_631894.2:p.Cys1008Trp
XM_011539300.1:c.2514C>G	XP_011537602.1:p.Cys838Trp
XM_011539301.1:c.2088C>G	XP_011537603.1:p.Cys696Trp
XM_011539302.1:c.2088C>G	XP_011537604.1:p.Cys696Trp
XM_011539309.1:c.1584C>G	XP_011537611.1:p.Cys528Trp
NM_080722.4:c.3015C>G MANE Select	NP_542453.2:p.Cys1005Trp
NM_139155.3:c.3024C>G	NP_631894.2:p.Cys1008Trp
XM_011539300.2:c.2514C>G	XP_011537602.1:p.Cys838Trp
XM_011539301.2:c.2088C>G	XP_011537603.1:p.Cys696Trp
XM_011539302.2:c.2088C>G	XP_011537604.1:p.Cys696Trp
XM_011539308.2:c.*94C>G	XP_011537610.1:n.*94C>G