Canonical Allele Identifier: CA7705243

Gene: ADAMTSL3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.83913372G>A , CM000677.2:g.83913372G>A	GRCh38
NC_000015.9:g.84582124G>A , CM000677.1:g.84582124G>A	GRCh37
NC_000015.8:g.82373128G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286744.10:c.1981G>A MANE Select	ENSP00000286744.5:p.Val661Met
ENST00000286744.9:c.1981G>A	ENSP00000286744.5:p.Val661Met
ENST00000561483.5:n.2196G>A
ENST00000567476.1:c.1981G>A	ENSP00000456313.1:p.Val661Met
NM_001301110.1:c.1981G>A	NP_001288039.1:p.Val661Met
NM_207517.2:c.1981G>A	NP_997400.2:p.Val661Met
XM_011521821.1:c.2062G>A	XP_011520123.1:p.Val688Met
XM_011521822.1:c.2062G>A	XP_011520124.1:p.Val688Met
XM_011521823.1:c.2062G>A	XP_011520125.1:p.Val688Met
XM_011521824.1:c.2062G>A	XP_011520126.1:p.Val688Met
XM_011521825.1:c.2062G>A	XP_011520127.1:p.Val688Met
XR_931873.1:n.2095G>A
XM_011521822.2:c.2062G>A	XP_011520124.1:p.Val688Met
XM_011521823.2:c.2062G>A	XP_011520125.1:p.Val688Met
XM_011521824.2:c.2062G>A	XP_011520126.1:p.Val688Met
XM_011521825.2:c.2062G>A	XP_011520127.1:p.Val688Met
XM_017022434.1:c.2062G>A	XP_016877923.1:p.Val688Met
XM_017022435.1:c.1486G>A	XP_016877924.1:p.Val496Met
XM_024450000.1:c.2062G>A	XP_024305768.1:p.Val688Met
XR_931873.2:n.2277G>A
NM_207517.3:c.1981G>A MANE Select	NP_997400.2:p.Val661Met
NM_001301110.2:c.1981G>A	NP_001288039.1:p.Val661Met