Canonical Allele Identifier: CA7706047

Gene: ADAMTSL3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84036992G>A , CM000677.2:g.84036992G>A	GRCh38
NC_000015.9:g.84705744G>A , CM000677.1:g.84705744G>A	GRCh37
NC_000015.8:g.82496748G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_207517.3:c.4969+5G>A MANE Select	NP_997400.2:n.4969+5G>A
ENST00000286744.10:c.4969+5G>A MANE Select	ENSP00000286744.5:n.4969+5G>A
NM_001301110.1:c.4974G>A	NP_001288039.1:p.Thr1658=
NM_001301110.2:c.4974G>A	NP_001288039.1:p.Thr1658=
NM_207517.2:c.4969+5G>A	NP_997400.2:n.4969+5G>A
ENST00000286744.9:c.4969+5G>A	ENSP00000286744.5:n.4969+5G>A
ENST00000567476.1:c.4974G>A	ENSP00000456313.1:p.Thr1658=
XM_011521821.1:c.5055G>A	XP_011520123.1:p.Thr1685=
XM_011521822.1:c.5050+5G>A	XP_011520124.1:n.5050+5G>A
XM_011521822.2:c.5050+5G>A	XP_011520124.1:n.5050+5G>A
XM_011521823.1:c.5055G>A	XP_011520125.1:p.Thr1685=
XM_011521823.2:c.5055G>A	XP_011520125.1:p.Thr1685=
XM_011521824.1:c.5050+5G>A	XP_011520126.1:n.5050+5G>A
XM_011521824.2:c.5050+5G>A	XP_011520126.1:n.5050+5G>A
XM_017022434.1:c.5055G>A	XP_016877923.1:p.Thr1685=
XM_017022435.1:c.4474+5G>A	XP_016877924.1:n.4474+5G>A