Canonical Allele Identifier: CA377109007
Gene: ADAMTS14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70758074G>T , CM000672.2:g.70758074G>T GRCh38
NC_000010.10:g.72517830G>T , CM000672.1:g.72517830G>T GRCh37
NC_000010.9:g.72187836G>T NCBI36
NG_042147.1:g.90272G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373207.2:c.3050G>T MANE Select ENSP00000362303.1:p.Ser1017Ile
ENST00000373207.1:c.3050G>T ENSP00000362303.1:p.Ser1017Ile
ENST00000373208.5:c.3059G>T ENSP00000362304.1:p.Ser1020Ile
NM_080722.3:c.3050G>T NP_542453.2:p.Ser1017Ile
NM_139155.2:c.3059G>T NP_631894.2:p.Ser1020Ile
XM_011539300.1:c.2549G>T XP_011537602.1:p.Ser850Ile
XM_011539301.1:c.2123G>T XP_011537603.1:p.Ser708Ile
XM_011539302.1:c.2123G>T XP_011537604.1:p.Ser708Ile
XM_011539309.1:c.1619G>T XP_011537611.1:p.Ser540Ile
NM_080722.4:c.3050G>T MANE Select NP_542453.2:p.Ser1017Ile
NM_139155.3:c.3059G>T NP_631894.2:p.Ser1020Ile
XM_011539300.2:c.2549G>T XP_011537602.1:p.Ser850Ile
XM_011539301.2:c.2123G>T XP_011537603.1:p.Ser708Ile
XM_011539302.2:c.2123G>T XP_011537604.1:p.Ser708Ile