Canonical Allele Identifier: CA377108821

Gene: ADAMTS14

Linked Data

• MyVariant Identifiers: chr10:g.72517742A>C (hg19) ; chr10:g.70757986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70757986A>C , CM000672.2:g.70757986A>C	GRCh38
NC_000010.10:g.72517742A>C , CM000672.1:g.72517742A>C	GRCh37
NC_000010.9:g.72187748A>C	NCBI36
NG_042147.1:g.90184A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373207.2:c.2962A>C MANE Select	ENSP00000362303.1:p.Ile988Leu
ENST00000373207.1:c.2962A>C	ENSP00000362303.1:p.Ile988Leu
ENST00000373208.5:c.2971A>C	ENSP00000362304.1:p.Ile991Leu
NM_080722.3:c.2962A>C	NP_542453.2:p.Ile988Leu
NM_139155.2:c.2971A>C	NP_631894.2:p.Ile991Leu
XM_011539300.1:c.2461A>C	XP_011537602.1:p.Ile821Leu
XM_011539301.1:c.2035A>C	XP_011537603.1:p.Ile679Leu
XM_011539302.1:c.2035A>C	XP_011537604.1:p.Ile679Leu
XM_011539308.1:c.*41A>C	XP_011537610.1:n.*41A>C
XM_011539309.1:c.1531A>C	XP_011537611.1:p.Ile511Leu
NM_080722.4:c.2962A>C MANE Select	NP_542453.2:p.Ile988Leu
NM_139155.3:c.2971A>C	NP_631894.2:p.Ile991Leu
XM_011539300.2:c.2461A>C	XP_011537602.1:p.Ile821Leu
XM_011539301.2:c.2035A>C	XP_011537603.1:p.Ile679Leu
XM_011539302.2:c.2035A>C	XP_011537604.1:p.Ile679Leu
XM_011539308.2:c.*41A>C	XP_011537610.1:n.*41A>C