Canonical Allele Identifier: CA1078030
Gene: ADAMTSL4 HGNC NCBI
ADAMTSL4-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 292522
dbSNP Id: rs145673891

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150553740G>A , CM000663.2:g.150553740G>A GRCh38
NC_000001.10:g.150526216G>A , CM000663.1:g.150526216G>A GRCh37
NC_000001.9:g.148792840G>A NCBI36
NG_012172.1:g.9319G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271643.9:c.749G>A (ADAMTSL4) MANE Select ENSP00000271643.4:p.Arg250Gln
ENST00000674043.1:c.749G>A (ADAMTSL4) ENSP00000501295.1:p.Arg250Gln
ENST00000674058.1:c.749G>A (ADAMTSL4) ENSP00000501255.1:p.Arg250Gln
ENST00000271643.8:c.749G>A (ADAMTSL4) ENSP00000271643.4:p.Arg250Gln
ENST00000369038.6:c.749G>A (ADAMTSL4) ENSP00000358034.2:p.Arg250Gln
ENST00000369039.9:c.749G>A (ADAMTSL4) ENSP00000358035.5:p.Arg250Gln
ENST00000369041.9:c.749G>A (ADAMTSL4) ENSP00000358037.5:p.Arg250Gln
NM_001288607.1:c.749G>A (ADAMTSL4) NP_001275536.1:p.Arg250Gln
NM_001288608.1:c.749G>A (ADAMTSL4) NP_001275537.1:p.Arg250Gln
NM_019032.5:c.749G>A (ADAMTSL4) NP_061905.2:p.Arg250Gln
NM_025008.4:c.749G>A (ADAMTSL4) NP_079284.2:p.Arg250Gln
XM_011509644.1:c.848G>A (ADAMTSL4) XP_011507946.1:p.Arg283Gln
XM_011509645.1:c.848G>A (ADAMTSL4) XP_011507947.1:p.Arg283Gln
XM_011509646.1:c.749G>A (ADAMTSL4) XP_011507948.1:p.Arg250Gln
XM_011509647.1:c.749G>A (ADAMTSL4) XP_011507949.1:p.Arg250Gln
XM_011509648.1:c.749G>A (ADAMTSL4) XP_011507950.1:p.Arg250Gln
XM_011509649.1:c.848G>A (ADAMTSL4) XP_011507951.1:p.Arg283Gln
XM_011509650.1:c.848G>A (ADAMTSL4) XP_011507952.1:p.Arg283Gln
XR_921844.1:n.1033G>A (ADAMTSL4)
XR_922132.1:n.370+795C>T (ADAMTSL4-AS2)
XR_922133.1:n.417+795C>T (ADAMTSL4-AS2)
XM_011509644.3:c.848G>A (ADAMTSL4) XP_011507946.1:p.Arg283Gln
XM_011509645.3:c.848G>A (ADAMTSL4) XP_011507947.1:p.Arg283Gln
XM_011509648.3:c.749G>A (ADAMTSL4) XP_011507950.1:p.Arg250Gln
XM_011509649.3:c.848G>A (ADAMTSL4) XP_011507951.1:p.Arg283Gln
XM_011509650.3:c.848G>A (ADAMTSL4) XP_011507952.1:p.Arg283Gln
XM_017001506.2:c.749G>A (ADAMTSL4) XP_016856995.1:p.Arg250Gln
XR_001737242.2:n.1006G>A (ADAMTSL4)
XR_001738226.1:n.466+795C>T (ADAMTSL4-AS2)
XR_001738227.1:n.466+795C>T (ADAMTSL4-AS2)
XR_001738228.1:n.371+795C>T (ADAMTSL4-AS2)
XR_001738229.1:n.357+2214C>T (ADAMTSL4-AS2)
XR_921844.3:n.1006G>A (ADAMTSL4)
NM_001288607.2:c.749G>A (ADAMTSL4) NP_001275536.1:p.Arg250Gln
NM_025008.5:c.749G>A (ADAMTSL4) NP_079284.2:p.Arg250Gln
NM_001288608.2:c.749G>A (ADAMTSL4) NP_001275537.1:p.Arg250Gln
NM_001378596.1:c.749G>A (ADAMTSL4) NP_001365525.1:p.Arg250Gln
NM_019032.6:c.749G>A (ADAMTSL4) MANE Select NP_061905.2:p.Arg250Gln