Canonical Allele Identifier: CA470056267

Gene: ADAMTS14

Linked Data

• MyVariant Identifiers: chr10:g.72517834G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758078G>C , CM000672.2:g.70758078G>C	GRCh38
NC_000010.10:g.72517834G>C , CM000672.1:g.72517834G>C	GRCh37
NC_000010.9:g.72187840G>C	NCBI36
NG_042147.1:g.90276G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3054G>C MANE Select	ENSP00000362303.1:p.Leu1018=
ENST00000373207.1:c.3054G>C	ENSP00000362303.1:p.Leu1018=
ENST00000373208.5:c.3063G>C	ENSP00000362304.1:p.Leu1021=
NM_080722.3:c.3054G>C	NP_542453.2:p.Leu1018=
NM_139155.2:c.3063G>C	NP_631894.2:p.Leu1021=
XM_011539300.1:c.2553G>C	XP_011537602.1:p.Leu851=
XM_011539301.1:c.2127G>C	XP_011537603.1:p.Leu709=
XM_011539302.1:c.2127G>C	XP_011537604.1:p.Leu709=
XM_011539309.1:c.1623G>C	XP_011537611.1:p.Leu541=
NM_080722.4:c.3054G>C MANE Select	NP_542453.2:p.Leu1018=
NM_139155.3:c.3063G>C	NP_631894.2:p.Leu1021=
XM_011539300.2:c.2553G>C	XP_011537602.1:p.Leu851=
XM_011539301.2:c.2127G>C	XP_011537603.1:p.Leu709=
XM_011539302.2:c.2127G>C	XP_011537604.1:p.Leu709=