Canonical Allele Identifier: CA10247905

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40363060G>A , CM000684.2:g.40363060G>A	GRCh38
NC_000022.10:g.40759064G>A , CM000684.1:g.40759064G>A	GRCh37
NC_000022.9:g.39089010G>A	NCBI36
NG_007993.1:g.21561G>A
NG_007993.2:g.21561G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000026.4:c.1090G>A MANE Select	NP_000017.1:p.Val364Met
ENST00000623063.3:c.1090G>A MANE Select	ENSP00000485525.1:p.Val364Met
NM_000026.2:c.1090G>A	NP_000017.1:p.Val364Met
NM_000026.3:c.1090G>A	NP_000017.1:p.Val364Met
NM_001123378.1:c.1090G>A	NP_001116850.1:p.Val364Met
NM_001123378.2:c.1090G>A	NP_001116850.1:p.Val364Met
NM_001123378.3:c.1090G>A	NP_001116850.1:p.Val364Met
NM_001317923.1:c.898G>A	NP_001304852.1:p.Val300Met
NM_001317923.2:c.898G>A	NP_001304852.1:p.Val300Met
NM_001363840.1:c.1090G>A	NP_001350769.1:p.Val364Met
NM_001363840.2:c.1090G>A	NP_001350769.1:p.Val364Met
NM_001363840.3:c.1090G>A	NP_001350769.1:p.Val364Met
NR_134256.1:n.1180G>A
NR_134256.2:n.1180G>A
ENST00000216194.11:c.1132G>A	ENSP00000216194.8:p.Val378Met
ENST00000342312.9:c.1090G>A	ENSP00000341429.6:p.Val364Met
ENST00000480775.3:c.*484G>A	ENSP00000485462.2:n.*484G>A
ENST00000623287.4:c.*515G>A	ENSP00000485437.1:n.*515G>A
ENST00000623632.4:c.793-1216G>A	ENSP00000485288.2:n.793-1216G>A
ENST00000625194.3:c.719G>A
ENST00000625194.4:c.1132G>A	ENSP00000485289.2:p.Val378Met
ENST00000636265.1:c.1090G>A	ENSP00000490909.1:p.Val364Met
ENST00000636433.1:n.1112G>A
ENST00000636714.1:c.1090G>A	ENSP00000490946.1:p.Val364Met
ENST00000637666.2:c.1090G>A	ENSP00000489696.2:p.Val364Met
ENST00000637669.1:c.1090G>A	ENSP00000489728.1:p.Val364Met
ENST00000639722.1:c.*786G>A	ENSP00000492828.1:n.*786G>A
ENST00000674592.1:n.2604G>A
ENST00000675622.1:n.4157G>A
ENST00000679609.1:c.*700G>A	ENSP00000506592.1:n.*700G>A
ENST00000679656.1:n.1775G>A
ENST00000679723.1:c.1045G>A	ENSP00000505155.1:p.Val349Met
ENST00000679845.1:n.1398G>A
ENST00000679904.1:n.1486G>A
ENST00000680378.1:c.1177G>A	ENSP00000505556.1:p.Val393Met
ENST00000680444.1:c.*453G>A	ENSP00000505298.1:n.*453G>A
ENST00000680978.1:c.1090G>A	ENSP00000505244.1:p.Val364Met
ENST00000681003.1:n.553G>A
ENST00000681159.1:n.2494G>A
XM_011529976.1:c.1090G>A	XP_011528278.1:p.Val364Met
XM_011529977.1:c.1090G>A	XP_011528279.1:p.Val364Met
XM_011529977.3:c.1090G>A	XP_011528279.1:p.Val364Met
XM_011529978.1:c.1090G>A	XP_011528280.1:p.Val364Met
XM_011529979.1:c.1090G>A	XP_011528281.1:p.Val364Met
XM_011529980.1:c.1090G>A	XP_011528282.1:p.Val364Met
XM_011529980.3:c.1090G>A	XP_011528282.1:p.Val364Met
XM_011529981.1:c.625G>A	XP_011528283.1:p.Val209Met
XM_011529982.1:c.259G>A	XP_011528284.1:p.Val87Met
XM_017028636.1:c.1045G>A	XP_016884125.1:p.Val349Met
XM_017028637.1:c.1045G>A	XP_016884126.1:p.Val349Met
XM_017028638.1:c.625G>A	XP_016884127.1:p.Val209Met
XM_017028639.2:c.625G>A	XP_016884128.1:p.Val209Met
XM_017028640.1:c.259G>A	XP_016884129.1:p.Val87Met
XM_024452166.1:c.1045G>A	XP_024307934.1:p.Val349Met
XR_001755176.2:n.1332G>A
XR_002958670.1:n.1117G>A
XR_002958671.1:n.1363G>A
XR_937824.1:n.1180G>A
XR_937825.1:n.1180G>A
XR_937825.3:n.1178G>A