Canonical Allele Identifier: CA411642556

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40360425C>T , CM000684.2:g.40360425C>T	GRCh38
NC_000022.10:g.40756429C>T , CM000684.1:g.40756429C>T	GRCh37
NC_000022.9:g.39086375C>T	NCBI36
NG_007993.1:g.18926C>T
NG_007993.2:g.18926C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000026.4:c.725C>T MANE Select	NP_000017.1:p.Thr242Ile
ENST00000623063.3:c.725C>T MANE Select	ENSP00000485525.1:p.Thr242Ile
NM_000026.2:c.725C>T	NP_000017.1:p.Thr242Ile
NM_000026.3:c.725C>T	NP_000017.1:p.Thr242Ile
NM_001123378.1:c.725C>T	NP_001116850.1:p.Thr242Ile
NM_001123378.2:c.725C>T	NP_001116850.1:p.Thr242Ile
NM_001123378.3:c.725C>T	NP_001116850.1:p.Thr242Ile
NM_001317923.1:c.533C>T	NP_001304852.1:p.Thr178Ile
NM_001317923.2:c.533C>T	NP_001304852.1:p.Thr178Ile
NM_001363840.1:c.725C>T	NP_001350769.1:p.Thr242Ile
NM_001363840.2:c.725C>T	NP_001350769.1:p.Thr242Ile
NM_001363840.3:c.725C>T	NP_001350769.1:p.Thr242Ile
NR_134256.1:n.784C>T
NR_134256.2:n.784C>T
ENST00000216194.11:c.767C>T	ENSP00000216194.8:p.Thr256Ile
ENST00000342312.9:c.725C>T	ENSP00000341429.6:p.Thr242Ile
ENST00000480775.2:c.139C>T
ENST00000480775.3:c.725C>T	ENSP00000485462.2:p.Thr242Ile
ENST00000623287.3:c.*150C>T	ENSP00000485437.1:n.*150C>T
ENST00000623287.4:c.*150C>T	ENSP00000485437.1:n.*150C>T
ENST00000623632.3:c.680C>T	ENSP00000485288.1:p.Thr227Ile
ENST00000623632.4:c.725C>T	ENSP00000485288.2:p.Thr242Ile
ENST00000623978.3:c.185C>T	ENSP00000485477.1:p.Thr62Ile
ENST00000624474.1:c.*150C>T	ENSP00000485286.1:n.*150C>T
ENST00000625194.3:c.312C>T
ENST00000625194.4:c.725C>T	ENSP00000485289.2:p.Thr242Ile
ENST00000636265.1:c.725C>T	ENSP00000490909.1:p.Thr242Ile
ENST00000636433.1:n.747C>T
ENST00000636714.1:c.725C>T	ENSP00000490946.1:p.Thr242Ile
ENST00000637666.2:c.725C>T	ENSP00000489696.2:p.Thr242Ile
ENST00000637669.1:c.725C>T	ENSP00000489728.1:p.Thr242Ile
ENST00000639722.1:c.*421C>T	ENSP00000492828.1:n.*421C>T
ENST00000674592.1:n.749C>T
ENST00000675622.1:n.3792C>T
ENST00000679609.1:c.*150C>T	ENSP00000506592.1:n.*150C>T
ENST00000679656.1:n.630C>T
ENST00000679723.1:c.680C>T	ENSP00000505155.1:p.Thr227Ile
ENST00000679845.1:n.848C>T
ENST00000679904.1:n.936C>T
ENST00000680378.1:c.812C>T	ENSP00000505556.1:p.Thr271Ile
ENST00000680444.1:c.725C>T	ENSP00000505298.1:p.Thr242Ile
ENST00000680978.1:c.725C>T	ENSP00000505244.1:p.Thr242Ile
ENST00000681003.1:n.157C>T
ENST00000681159.1:n.784C>T
XM_011529976.1:c.725C>T	XP_011528278.1:p.Thr242Ile
XM_011529977.1:c.725C>T	XP_011528279.1:p.Thr242Ile
XM_011529977.3:c.725C>T	XP_011528279.1:p.Thr242Ile
XM_011529978.1:c.725C>T	XP_011528280.1:p.Thr242Ile
XM_011529979.1:c.725C>T	XP_011528281.1:p.Thr242Ile
XM_011529980.1:c.725C>T	XP_011528282.1:p.Thr242Ile
XM_011529980.3:c.725C>T	XP_011528282.1:p.Thr242Ile
XM_011529981.1:c.260C>T	XP_011528283.1:p.Thr87Ile
XM_011529982.1:c.-292C>T	XP_011528284.1:n.-292C>T
XM_017028636.1:c.680C>T	XP_016884125.1:p.Thr227Ile
XM_017028637.1:c.680C>T	XP_016884126.1:p.Thr227Ile
XM_017028638.1:c.260C>T	XP_016884127.1:p.Thr87Ile
XM_017028639.2:c.260C>T	XP_016884128.1:p.Thr87Ile
XM_017028640.1:c.-292C>T	XP_016884129.1:n.-292C>T
XM_024452166.1:c.680C>T	XP_024307934.1:p.Thr227Ile
XR_001755176.2:n.782C>T
XR_002958670.1:n.721C>T
XR_002958671.1:n.782C>T
XR_937824.1:n.784C>T
XR_937825.1:n.784C>T
XR_937825.3:n.782C>T
XR_937826.1:n.784C>T