Canonical Allele Identifier: CA3000099090
Community Standard Title: NM_199355.4(ADAMTS18):c.495+20797T>G
Gene: ADAMTS18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.77410498A>C , CM000678.2:g.77410498A>C GRCh38
NC_000016.9:g.77444395A>C , CM000678.1:g.77444395A>C GRCh37
NC_000016.8:g.76001896A>C NCBI36
NG_031879.1:g.29617T>G
NG_031879.2:g.29617T>G

Transcript Alleles

HGVS Amino-acid Change
NM_199355.4:c.495+20797T>G MANE Select NP_955387.1:n.495+20797T>G
ENST00000282849.10:c.495+20797T>G MANE Select ENSP00000282849.5:n.495+20797T>G
NM_001326358.1:c.-26+20797T>G NP_001313287.1:n.-26+20797T>G
NM_001326358.2:c.-26+20797T>G NP_001313287.1:n.-26+20797T>G
NM_199355.2:c.495+20797T>G NP_955387.1:n.495+20797T>G
NM_199355.3:c.495+20797T>G NP_955387.1:n.495+20797T>G
ENST00000282849.9:c.495+20797T>G ENSP00000282849.5:n.495+20797T>G
ENST00000449265.2:c.495+20797T>G ENSP00000392540.2:n.495+20797T>G
ENST00000562345.1:c.293+20797T>G
ENST00000564369.1:n.421+20797T>G
ENST00000567121.5:n.352+20797T>G
ENST00000567914.1:n.339+20797T>G
ENST00000569309.1:n.452+20797T>G
XM_011522923.1:c.-26+20797T>G XP_011521225.1:n.-26+20797T>G
XM_011522924.1:c.-26+20797T>G XP_011521226.1:n.-26+20797T>G
XM_011522924.2:c.-26+20797T>G XP_011521226.1:n.-26+20797T>G
XM_017022988.2:c.-586+20797T>G XP_016878477.1:n.-586+20797T>G
XM_017022989.1:c.-582+20797T>G XP_016878478.1:n.-582+20797T>G