Canonical Allele Identifier: CA377108996

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758070-T-C
• MyVariant Identifiers: chr10:g.72517826T>C (hg19) ; chr10:g.70758070T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758070T>C , CM000672.2:g.70758070T>C	GRCh38
NC_000010.10:g.72517826T>C , CM000672.1:g.72517826T>C	GRCh37
NC_000010.9:g.72187832T>C	NCBI36
NG_042147.1:g.90268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3046T>C MANE Select	ENSP00000362303.1:p.Cys1016Arg
ENST00000373207.1:c.3046T>C	ENSP00000362303.1:p.Cys1016Arg
ENST00000373208.5:c.3055T>C	ENSP00000362304.1:p.Cys1019Arg
NM_080722.3:c.3046T>C	NP_542453.2:p.Cys1016Arg
NM_139155.2:c.3055T>C	NP_631894.2:p.Cys1019Arg
XM_011539300.1:c.2545T>C	XP_011537602.1:p.Cys849Arg
XM_011539301.1:c.2119T>C	XP_011537603.1:p.Cys707Arg
XM_011539302.1:c.2119T>C	XP_011537604.1:p.Cys707Arg
XM_011539309.1:c.1615T>C	XP_011537611.1:p.Cys539Arg
NM_080722.4:c.3046T>C MANE Select	NP_542453.2:p.Cys1016Arg
NM_139155.3:c.3055T>C	NP_631894.2:p.Cys1019Arg
XM_011539300.2:c.2545T>C	XP_011537602.1:p.Cys849Arg
XM_011539301.2:c.2119T>C	XP_011537603.1:p.Cys707Arg
XM_011539302.2:c.2119T>C	XP_011537604.1:p.Cys707Arg