Canonical Allele Identifier: CA10247888

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40362972G>C , CM000684.2:g.40362972G>C	GRCh38
NC_000022.10:g.40758976G>C , CM000684.1:g.40758976G>C	GRCh37
NC_000022.9:g.39088922G>C	NCBI36
NG_007993.1:g.21473G>C
NG_007993.2:g.21473G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000026.4:c.1011-9G>C MANE Select	NP_000017.1:n.1011-9G>C
ENST00000623063.3:c.1011-9G>C MANE Select	ENSP00000485525.1:n.1011-9G>C
NM_000026.2:c.1011-9G>C	NP_000017.1:n.1011-9G>C
NM_000026.3:c.1011-9G>C	NP_000017.1:n.1011-9G>C
NM_001123378.1:c.1011-9G>C	NP_001116850.1:n.1011-9G>C
NM_001123378.2:c.1011-9G>C	NP_001116850.1:n.1011-9G>C
NM_001123378.3:c.1011-9G>C	NP_001116850.1:n.1011-9G>C
NM_001317923.1:c.819-9G>C	NP_001304852.1:n.819-9G>C
NM_001317923.2:c.819-9G>C	NP_001304852.1:n.819-9G>C
NM_001363840.1:c.1011-9G>C	NP_001350769.1:n.1011-9G>C
NM_001363840.2:c.1011-9G>C	NP_001350769.1:n.1011-9G>C
NM_001363840.3:c.1011-9G>C	NP_001350769.1:n.1011-9G>C
NR_134256.1:n.1101-9G>C
NR_134256.2:n.1101-9G>C
ENST00000216194.11:c.1053-9G>C	ENSP00000216194.8:n.1053-9G>C
ENST00000342312.9:c.1011-9G>C	ENSP00000341429.6:n.1011-9G>C
ENST00000480775.2:c.641-9G>C
ENST00000480775.3:c.*405-9G>C	ENSP00000485462.2:n.*405-9G>C
ENST00000623287.4:c.*436-9G>C	ENSP00000485437.1:n.*436-9G>C
ENST00000623632.4:c.793-1304G>C	ENSP00000485288.2:n.793-1304G>C
ENST00000625194.3:c.640-9G>C
ENST00000625194.4:c.1053-9G>C	ENSP00000485289.2:n.1053-9G>C
ENST00000636265.1:c.1011-9G>C	ENSP00000490909.1:n.1011-9G>C
ENST00000636433.1:n.1033-9G>C
ENST00000636714.1:c.1011-9G>C	ENSP00000490946.1:n.1011-9G>C
ENST00000637666.2:c.1011-9G>C	ENSP00000489696.2:n.1011-9G>C
ENST00000637669.1:c.1011-9G>C	ENSP00000489728.1:n.1011-9G>C
ENST00000639722.1:c.*707-9G>C	ENSP00000492828.1:n.*707-9G>C
ENST00000674592.1:n.2516G>C
ENST00000675622.1:n.4078-9G>C
ENST00000679609.1:c.*621-9G>C	ENSP00000506592.1:n.*621-9G>C
ENST00000679656.1:n.1696-9G>C
ENST00000679723.1:c.966-9G>C	ENSP00000505155.1:n.966-9G>C
ENST00000679845.1:n.1319-9G>C
ENST00000679904.1:n.1407-9G>C
ENST00000680378.1:c.1098-9G>C	ENSP00000505556.1:n.1098-9G>C
ENST00000680444.1:c.*374-9G>C	ENSP00000505298.1:n.*374-9G>C
ENST00000680978.1:c.1011-9G>C	ENSP00000505244.1:n.1011-9G>C
ENST00000681003.1:n.474-9G>C
ENST00000681159.1:n.2406G>C
XM_011529976.1:c.1011-9G>C	XP_011528278.1:n.1011-9G>C
XM_011529977.1:c.1011-9G>C	XP_011528279.1:n.1011-9G>C
XM_011529977.3:c.1011-9G>C	XP_011528279.1:n.1011-9G>C
XM_011529978.1:c.1011-9G>C	XP_011528280.1:n.1011-9G>C
XM_011529979.1:c.1011-9G>C	XP_011528281.1:n.1011-9G>C
XM_011529980.1:c.1011-9G>C	XP_011528282.1:n.1011-9G>C
XM_011529980.3:c.1011-9G>C	XP_011528282.1:n.1011-9G>C
XM_011529981.1:c.546-9G>C	XP_011528283.1:n.546-9G>C
XM_011529982.1:c.180-9G>C	XP_011528284.1:n.180-9G>C
XM_017028636.1:c.966-9G>C	XP_016884125.1:n.966-9G>C
XM_017028637.1:c.966-9G>C	XP_016884126.1:n.966-9G>C
XM_017028638.1:c.546-9G>C	XP_016884127.1:n.546-9G>C
XM_017028639.2:c.546-9G>C	XP_016884128.1:n.546-9G>C
XM_017028640.1:c.180-9G>C	XP_016884129.1:n.180-9G>C
XM_024452166.1:c.966-9G>C	XP_024307934.1:n.966-9G>C
XR_001755176.2:n.1253-9G>C
XR_002958670.1:n.1038-9G>C
XR_002958671.1:n.1284-9G>C
XR_937824.1:n.1101-9G>C
XR_937825.1:n.1101-9G>C
XR_937825.3:n.1099-9G>C
XR_937826.1:n.1286-9G>C