Canonical Allele Identifier: CA1078976

Gene: ADAMTSL4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150560149C>G , CM000663.2:g.150560149C>G	GRCh38
NC_000001.10:g.150532625C>G , CM000663.1:g.150532625C>G	GRCh37
NC_000001.9:g.148799249C>G	NCBI36
NG_012172.1:g.15728C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019032.6:c.3178C>G MANE Select	NP_061905.2:p.Arg1060Gly
ENST00000271643.9:c.3178C>G MANE Select	ENSP00000271643.4:p.Arg1060Gly
NM_001288607.1:c.3061C>G	NP_001275536.1:p.Arg1021Gly
NM_001288607.2:c.3061C>G	NP_001275536.1:p.Arg1021Gly
NM_001288608.1:c.3247C>G	NP_001275537.1:p.Arg1083Gly
NM_001288608.2:c.3247C>G	NP_001275537.1:p.Arg1083Gly
NM_001378596.1:c.3178C>G	NP_001365525.1:p.Arg1060Gly
NM_019032.5:c.3178C>G	NP_061905.2:p.Arg1060Gly
ENST00000271643.8:c.3178C>G	ENSP00000271643.4:p.Arg1060Gly
ENST00000369038.6:c.3178C>G	ENSP00000358034.2:p.Arg1060Gly
ENST00000369039.9:c.3247C>G	ENSP00000358035.5:p.Arg1083Gly
ENST00000489159.1:n.1015C>G
ENST00000622417.4:c.*482C>G	ENSP00000477897.1:n.*482C>G
ENST00000674043.1:c.3247C>G	ENSP00000501295.1:p.Arg1083Gly
ENST00000674058.1:c.3061C>G	ENSP00000501255.1:p.Arg1021Gly
XM_011509644.1:c.3346C>G	XP_011507946.1:p.Arg1116Gly
XM_011509644.3:c.3346C>G	XP_011507946.1:p.Arg1116Gly
XM_011509645.1:c.3277C>G	XP_011507947.1:p.Arg1093Gly
XM_011509645.3:c.3277C>G	XP_011507947.1:p.Arg1093Gly
XM_011509646.1:c.3247C>G	XP_011507948.1:p.Arg1083Gly
XM_011509647.1:c.3247C>G	XP_011507949.1:p.Arg1083Gly
XM_011509648.1:c.3247C>G	XP_011507950.1:p.Arg1083Gly
XM_011509648.3:c.3247C>G	XP_011507950.1:p.Arg1083Gly
XM_011509651.1:c.1855C>G	XP_011507953.1:p.Arg619Gly
XM_011509651.2:c.1855C>G	XP_011507953.1:p.Arg619Gly
XM_011509652.1:c.1855C>G	XP_011507954.1:p.Arg619Gly
XM_011509652.2:c.1855C>G	XP_011507954.1:p.Arg619Gly
XM_017001506.2:c.3247C>G	XP_016856995.1:p.Arg1083Gly
XM_017001507.1:c.1591C>G	XP_016856996.1:p.Arg531Gly
XR_921844.1:n.3747C>G
XR_921844.3:n.3720C>G