Canonical Allele Identifier: CA377108852

Gene: ADAMTS14

Linked Data

• MyVariant Identifiers: chr10:g.72517757G>C (hg19) ; chr10:g.70758001G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758001G>C , CM000672.2:g.70758001G>C	GRCh38
NC_000010.10:g.72517757G>C , CM000672.1:g.72517757G>C	GRCh37
NC_000010.9:g.72187763G>C	NCBI36
NG_042147.1:g.90199G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2977G>C MANE Select	ENSP00000362303.1:p.Val993Leu
ENST00000373207.1:c.2977G>C	ENSP00000362303.1:p.Val993Leu
ENST00000373208.5:c.2986G>C	ENSP00000362304.1:p.Val996Leu
NM_080722.3:c.2977G>C	NP_542453.2:p.Val993Leu
NM_139155.2:c.2986G>C	NP_631894.2:p.Val996Leu
XM_011539300.1:c.2476G>C	XP_011537602.1:p.Val826Leu
XM_011539301.1:c.2050G>C	XP_011537603.1:p.Val684Leu
XM_011539302.1:c.2050G>C	XP_011537604.1:p.Val684Leu
XM_011539308.1:c.*56G>C	XP_011537610.1:n.*56G>C
XM_011539309.1:c.1546G>C	XP_011537611.1:p.Val516Leu
NM_080722.4:c.2977G>C MANE Select	NP_542453.2:p.Val993Leu
NM_139155.3:c.2986G>C	NP_631894.2:p.Val996Leu
XM_011539300.2:c.2476G>C	XP_011537602.1:p.Val826Leu
XM_011539301.2:c.2050G>C	XP_011537603.1:p.Val684Leu
XM_011539302.2:c.2050G>C	XP_011537604.1:p.Val684Leu
XM_011539308.2:c.*56G>C	XP_011537610.1:n.*56G>C