Canonical Allele Identifier: CA324459346

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40363065C>A , CM000684.2:g.40363065C>A	GRCh38
NC_000022.10:g.40759069C>A , CM000684.1:g.40759069C>A	GRCh37
NC_000022.9:g.39089015C>A	NCBI36
NG_007993.1:g.21566C>A
NG_007993.2:g.21566C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000026.4:c.1095C>A MANE Select	NP_000017.1:p.Tyr365Ter
ENST00000623063.3:c.1095C>A MANE Select	ENSP00000485525.1:p.Tyr365Ter
NM_000026.2:c.1095C>A	NP_000017.1:p.Tyr365Ter
NM_000026.3:c.1095C>A	NP_000017.1:p.Tyr365Ter
NM_001123378.1:c.1095C>A	NP_001116850.1:p.Tyr365Ter
NM_001123378.2:c.1095C>A	NP_001116850.1:p.Tyr365Ter
NM_001123378.3:c.1095C>A	NP_001116850.1:p.Tyr365Ter
NM_001317923.1:c.903C>A	NP_001304852.1:p.Tyr301Ter
NM_001317923.2:c.903C>A	NP_001304852.1:p.Tyr301Ter
NM_001363840.1:c.1095C>A	NP_001350769.1:p.Tyr365Ter
NM_001363840.2:c.1095C>A	NP_001350769.1:p.Tyr365Ter
NM_001363840.3:c.1095C>A	NP_001350769.1:p.Tyr365Ter
NR_134256.1:n.1185C>A
NR_134256.2:n.1185C>A
ENST00000216194.11:c.1137C>A	ENSP00000216194.8:p.Tyr379Ter
ENST00000342312.9:c.1095C>A	ENSP00000341429.6:p.Tyr365Ter
ENST00000480775.3:c.*489C>A	ENSP00000485462.2:n.*489C>A
ENST00000623287.4:c.*520C>A	ENSP00000485437.1:n.*520C>A
ENST00000623632.4:c.793-1211C>A	ENSP00000485288.2:n.793-1211C>A
ENST00000625194.3:c.724C>A
ENST00000625194.4:c.1137C>A	ENSP00000485289.2:p.Tyr379Ter
ENST00000636265.1:c.1095C>A	ENSP00000490909.1:p.Tyr365Ter
ENST00000636433.1:n.1117C>A
ENST00000636714.1:c.1095C>A	ENSP00000490946.1:p.Tyr365Ter
ENST00000637666.2:c.1095C>A	ENSP00000489696.2:p.Tyr365Ter
ENST00000637669.1:c.1095C>A	ENSP00000489728.1:p.Tyr365Ter
ENST00000639722.1:c.*791C>A	ENSP00000492828.1:n.*791C>A
ENST00000674592.1:n.2609C>A
ENST00000675622.1:n.4162C>A
ENST00000679609.1:c.*705C>A	ENSP00000506592.1:n.*705C>A
ENST00000679656.1:n.1780C>A
ENST00000679723.1:c.1050C>A	ENSP00000505155.1:p.Tyr350Ter
ENST00000679845.1:n.1403C>A
ENST00000679904.1:n.1491C>A
ENST00000680378.1:c.1182C>A	ENSP00000505556.1:p.Tyr394Ter
ENST00000680444.1:c.*458C>A	ENSP00000505298.1:n.*458C>A
ENST00000680978.1:c.1095C>A	ENSP00000505244.1:p.Tyr365Ter
ENST00000681003.1:n.558C>A
ENST00000681159.1:n.2499C>A
XM_011529976.1:c.1095C>A	XP_011528278.1:p.Tyr365Ter
XM_011529977.1:c.1095C>A	XP_011528279.1:p.Tyr365Ter
XM_011529977.3:c.1095C>A	XP_011528279.1:p.Tyr365Ter
XM_011529978.1:c.1095C>A	XP_011528280.1:p.Tyr365Ter
XM_011529979.1:c.1095C>A	XP_011528281.1:p.Tyr365Ter
XM_011529980.1:c.1095C>A	XP_011528282.1:p.Tyr365Ter
XM_011529980.3:c.1095C>A	XP_011528282.1:p.Tyr365Ter
XM_011529981.1:c.630C>A	XP_011528283.1:p.Tyr210Ter
XM_011529982.1:c.264C>A	XP_011528284.1:p.Tyr88Ter
XM_017028636.1:c.1050C>A	XP_016884125.1:p.Tyr350Ter
XM_017028637.1:c.1050C>A	XP_016884126.1:p.Tyr350Ter
XM_017028638.1:c.630C>A	XP_016884127.1:p.Tyr210Ter
XM_017028639.2:c.630C>A	XP_016884128.1:p.Tyr210Ter
XM_017028640.1:c.264C>A	XP_016884129.1:p.Tyr88Ter
XM_024452166.1:c.1050C>A	XP_024307934.1:p.Tyr350Ter
XR_001755176.2:n.1337C>A
XR_002958670.1:n.1122C>A
XR_002958671.1:n.1368C>A
XR_937824.1:n.1185C>A
XR_937825.1:n.1185C>A
XR_937825.3:n.1183C>A