Canonical Allele Identifier: CA396831857
Gene: ADAMTS18 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.77335784A>G , CM000678.2:g.77335784A>G GRCh38
NC_000016.9:g.77369681A>G , CM000678.1:g.77369681A>G GRCh37
NC_000016.8:g.75927182A>G NCBI36
NG_031879.1:g.104331T>C
NG_031879.2:g.104331T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282849.10:c.1831T>C MANE Select ENSP00000282849.5:p.Phe611Leu
ENST00000282849.9:c.1831T>C ENSP00000282849.5:p.Phe611Leu
NM_199355.2:c.1831T>C NP_955387.1:p.Phe611Leu
XM_006721158.2:c.-85T>C XP_006721221.1:n.-85T>C
XM_011522923.1:c.1315T>C XP_011521225.1:p.Phe439Leu
XM_011522924.1:c.1315T>C XP_011521226.1:p.Phe439Leu
NM_001326358.1:c.1315T>C NP_001313287.1:p.Phe439Leu
NM_199355.3:c.1831T>C NP_955387.1:p.Phe611Leu
XM_011522924.2:c.1315T>C XP_011521226.1:p.Phe439Leu
XM_017022988.2:c.595T>C XP_016878477.1:p.Phe199Leu
XM_017022989.1:c.595T>C XP_016878478.1:p.Phe199Leu
NM_199355.4:c.1831T>C MANE Select NP_955387.1:p.Phe611Leu
NM_001326358.2:c.1315T>C NP_001313287.1:p.Phe439Leu