Canonical Allele Identifier: CA377108928

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758037-T-C
• MyVariant Identifiers: chr10:g.72517793T>C (hg19) ; chr10:g.70758037T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758037T>C , CM000672.2:g.70758037T>C	GRCh38
NC_000010.10:g.72517793T>C , CM000672.1:g.72517793T>C	GRCh37
NC_000010.9:g.72187799T>C	NCBI36
NG_042147.1:g.90235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3013T>C MANE Select	ENSP00000362303.1:p.Cys1005Arg
ENST00000373207.1:c.3013T>C	ENSP00000362303.1:p.Cys1005Arg
ENST00000373208.5:c.3022T>C	ENSP00000362304.1:p.Cys1008Arg
NM_080722.3:c.3013T>C	NP_542453.2:p.Cys1005Arg
NM_139155.2:c.3022T>C	NP_631894.2:p.Cys1008Arg
XM_011539300.1:c.2512T>C	XP_011537602.1:p.Cys838Arg
XM_011539301.1:c.2086T>C	XP_011537603.1:p.Cys696Arg
XM_011539302.1:c.2086T>C	XP_011537604.1:p.Cys696Arg
XM_011539309.1:c.1582T>C	XP_011537611.1:p.Cys528Arg
NM_080722.4:c.3013T>C MANE Select	NP_542453.2:p.Cys1005Arg
NM_139155.3:c.3022T>C	NP_631894.2:p.Cys1008Arg
XM_011539300.2:c.2512T>C	XP_011537602.1:p.Cys838Arg
XM_011539301.2:c.2086T>C	XP_011537603.1:p.Cys696Arg
XM_011539302.2:c.2086T>C	XP_011537604.1:p.Cys696Arg
XM_011539308.2:c.*92T>C	XP_011537610.1:n.*92T>C