Canonical Allele Identifier: CA342313327
Gene: ADAMTSL4 HGNC NCBI
ADAMTSL4-AS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150556981G>A , CM000663.2:g.150556981G>A GRCh38
NC_000001.10:g.150529457G>A , CM000663.1:g.150529457G>A GRCh37
NC_000001.9:g.148796081G>A NCBI36
NG_012172.1:g.12560G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000271643.9:c.1792G>A (ADAMTSL4) MANE Select ENSP00000271643.4:p.Val598Ile
ENST00000674043.1:c.1861G>A (ADAMTSL4) ENSP00000501295.1:p.Val621Ile
ENST00000674058.1:c.1856+5G>A (ADAMTSL4) ENSP00000501255.1:n.1856+5G>A
ENST00000271643.8:c.1792G>A (ADAMTSL4) ENSP00000271643.4:p.Val598Ile
ENST00000369038.6:c.1792G>A (ADAMTSL4) ENSP00000358034.2:p.Val598Ile
ENST00000369039.9:c.1861G>A (ADAMTSL4) ENSP00000358035.5:p.Val621Ile
ENST00000369041.9:c.1792G>A (ADAMTSL4) ENSP00000358037.5:p.Val598Ile
ENST00000622417.4:c.406G>A (ADAMTSL4) ENSP00000477897.1:p.Val136Ile
NM_001288607.1:c.1856+5G>A (ADAMTSL4) NP_001275536.1:n.1856+5G>A
NM_001288608.1:c.1861G>A (ADAMTSL4) NP_001275537.1:p.Val621Ile
NM_019032.5:c.1792G>A (ADAMTSL4) NP_061905.2:p.Val598Ile
NM_025008.4:c.1792G>A (ADAMTSL4) NP_079284.2:p.Val598Ile
XM_011509644.1:c.1960G>A (ADAMTSL4) XP_011507946.1:p.Val654Ile
XM_011509645.1:c.1891G>A (ADAMTSL4) XP_011507947.1:p.Val631Ile
XM_011509646.1:c.1861G>A (ADAMTSL4) XP_011507948.1:p.Val621Ile
XM_011509647.1:c.1861G>A (ADAMTSL4) XP_011507949.1:p.Val621Ile
XM_011509648.1:c.1861G>A (ADAMTSL4) XP_011507950.1:p.Val621Ile
XM_011509649.1:c.1960G>A (ADAMTSL4) XP_011507951.1:p.Val654Ile
XM_011509650.1:c.1960G>A (ADAMTSL4) XP_011507952.1:p.Val654Ile
XM_011509651.1:c.469G>A (ADAMTSL4) XP_011507953.1:p.Val157Ile
XM_011509652.1:c.469G>A (ADAMTSL4) XP_011507954.1:p.Val157Ile
XR_921844.1:n.2145G>A (ADAMTSL4)
XR_922133.1:n.139+712C>T (ADAMTSL4-AS2)
XM_011509644.3:c.1960G>A (ADAMTSL4) XP_011507946.1:p.Val654Ile
XM_011509645.3:c.1891G>A (ADAMTSL4) XP_011507947.1:p.Val631Ile
XM_011509648.3:c.1861G>A (ADAMTSL4) XP_011507950.1:p.Val621Ile
XM_011509649.3:c.1960G>A (ADAMTSL4) XP_011507951.1:p.Val654Ile
XM_011509650.3:c.1960G>A (ADAMTSL4) XP_011507952.1:p.Val654Ile
XM_011509651.2:c.469G>A (ADAMTSL4) XP_011507953.1:p.Val157Ile
XM_011509652.2:c.469G>A (ADAMTSL4) XP_011507954.1:p.Val157Ile
XM_017001506.2:c.1861G>A (ADAMTSL4) XP_016856995.1:p.Val621Ile
XM_017001507.1:c.205G>A (ADAMTSL4) XP_016856996.1:p.Val69Ile
XR_001737242.2:n.1945G>A (ADAMTSL4)
XR_921844.3:n.2118G>A (ADAMTSL4)
NM_001288607.2:c.1856+5G>A (ADAMTSL4) NP_001275536.1:n.1856+5G>A
NM_025008.5:c.1792G>A (ADAMTSL4) NP_079284.2:p.Val598Ile
NM_001288608.2:c.1861G>A (ADAMTSL4) NP_001275537.1:p.Val621Ile
NM_001378596.1:c.1792G>A (ADAMTSL4) NP_001365525.1:p.Val598Ile
NM_019032.6:c.1792G>A (ADAMTSL4) MANE Select NP_061905.2:p.Val598Ile