Canonical Allele Identifier: CA10247920

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364270C>G , CM000684.2:g.40364270C>G	GRCh38
NC_000022.10:g.40760274C>G , CM000684.1:g.40760274C>G	GRCh37
NC_000022.9:g.39090220C>G	NCBI36
NG_007993.1:g.22771C>G
NG_007993.2:g.22771C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000026.4:c.1102-6C>G MANE Select	NP_000017.1:n.1102-6C>G
ENST00000623063.3:c.1102-6C>G MANE Select	ENSP00000485525.1:n.1102-6C>G
NM_000026.2:c.1102-6C>G	NP_000017.1:n.1102-6C>G
NM_000026.3:c.1102-6C>G	NP_000017.1:n.1102-6C>G
NM_001123378.1:c.1102-6C>G	NP_001116850.1:n.1102-6C>G
NM_001123378.2:c.1102-6C>G	NP_001116850.1:n.1102-6C>G
NM_001123378.3:c.1102-6C>G	NP_001116850.1:n.1102-6C>G
NM_001317923.1:c.910-6C>G	NP_001304852.1:n.910-6C>G
NM_001317923.2:c.910-6C>G	NP_001304852.1:n.910-6C>G
NM_001363840.1:c.1102-6C>G	NP_001350769.1:n.1102-6C>G
NM_001363840.2:c.1102-6C>G	NP_001350769.1:n.1102-6C>G
NM_001363840.3:c.1102-6C>G	NP_001350769.1:n.1102-6C>G
NR_134256.1:n.1192-6C>G
NR_134256.2:n.1192-6C>G
ENST00000216194.11:c.1144-6C>G	ENSP00000216194.8:n.1144-6C>G
ENST00000342312.9:c.1102-6C>G	ENSP00000341429.6:n.1102-6C>G
ENST00000480775.3:c.*496-6C>G	ENSP00000485462.2:n.*496-6C>G
ENST00000623287.4:c.*527-6C>G	ENSP00000485437.1:n.*527-6C>G
ENST00000623632.4:c.793-6C>G	ENSP00000485288.2:n.793-6C>G
ENST00000625194.3:c.731-6C>G
ENST00000625194.4:c.1144-6C>G	ENSP00000485289.2:n.1144-6C>G
ENST00000636265.1:c.1123-6C>G	ENSP00000490909.1:n.1123-6C>G
ENST00000636433.1:n.1124-6C>G
ENST00000636714.1:c.1102-6C>G	ENSP00000490946.1:n.1102-6C>G
ENST00000637666.2:c.1102-6C>G	ENSP00000489696.2:n.1102-6C>G
ENST00000637669.1:c.1102-6C>G	ENSP00000489728.1:n.1102-6C>G
ENST00000639722.1:c.*798-6C>G	ENSP00000492828.1:n.*798-6C>G
ENST00000674592.1:n.2616-6C>G
ENST00000675622.1:n.4169-6C>G
ENST00000679609.1:c.*712-6C>G	ENSP00000506592.1:n.*712-6C>G
ENST00000679656.1:n.1787-6C>G
ENST00000679723.1:c.1057-6C>G	ENSP00000505155.1:n.1057-6C>G
ENST00000679845.1:n.1410-6C>G
ENST00000679904.1:n.1498-6C>G
ENST00000680378.1:c.1189-6C>G	ENSP00000505556.1:n.1189-6C>G
ENST00000680444.1:c.*465-6C>G	ENSP00000505298.1:n.*465-6C>G
ENST00000680978.1:c.1102-6C>G	ENSP00000505244.1:n.1102-6C>G
ENST00000681003.1:n.565-6C>G
ENST00000681159.1:n.2506-6C>G
XM_011529976.1:c.1102-6C>G	XP_011528278.1:n.1102-6C>G
XM_011529977.1:c.1102-6C>G	XP_011528279.1:n.1102-6C>G
XM_011529977.3:c.1102-6C>G	XP_011528279.1:n.1102-6C>G
XM_011529978.1:c.1102-6C>G	XP_011528280.1:n.1102-6C>G
XM_011529979.1:c.1102-6C>G	XP_011528281.1:n.1102-6C>G
XM_011529980.1:c.1102-6C>G	XP_011528282.1:n.1102-6C>G
XM_011529980.3:c.1102-6C>G	XP_011528282.1:n.1102-6C>G
XM_011529981.1:c.637-6C>G	XP_011528283.1:n.637-6C>G
XM_011529982.1:c.271-6C>G	XP_011528284.1:n.271-6C>G
XM_017028636.1:c.1057-6C>G	XP_016884125.1:n.1057-6C>G
XM_017028637.1:c.1057-6C>G	XP_016884126.1:n.1057-6C>G
XM_017028638.1:c.637-6C>G	XP_016884127.1:n.637-6C>G
XM_017028639.2:c.637-6C>G	XP_016884128.1:n.637-6C>G
XM_017028640.1:c.271-6C>G	XP_016884129.1:n.271-6C>G
XM_024452166.1:c.1057-6C>G	XP_024307934.1:n.1057-6C>G
XR_001755176.2:n.1344-6C>G
XR_002958670.1:n.1129-6C>G
XR_937824.1:n.1192-6C>G
XR_937825.1:n.1192-6C>G
XR_937825.3:n.1190-6C>G