Canonical Allele Identifier: CA411640840

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40358931C>T , CM000684.2:g.40358931C>T	GRCh38
NC_000022.10:g.40754935C>T , CM000684.1:g.40754935C>T	GRCh37
NC_000022.9:g.39084881C>T	NCBI36
NG_007993.1:g.17432C>T
NG_007993.2:g.17432C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000026.4:c.550C>T MANE Select	NP_000017.1:p.Gln184Ter
ENST00000623063.3:c.550C>T MANE Select	ENSP00000485525.1:p.Gln184Ter
NM_000026.2:c.550C>T	NP_000017.1:p.Gln184Ter
NM_000026.3:c.550C>T	NP_000017.1:p.Gln184Ter
NM_001123378.1:c.550C>T	NP_001116850.1:p.Gln184Ter
NM_001123378.2:c.550C>T	NP_001116850.1:p.Gln184Ter
NM_001123378.3:c.550C>T	NP_001116850.1:p.Gln184Ter
NM_001317923.1:c.358C>T	NP_001304852.1:p.Gln120Ter
NM_001317923.2:c.358C>T	NP_001304852.1:p.Gln120Ter
NM_001363840.1:c.550C>T	NP_001350769.1:p.Gln184Ter
NM_001363840.2:c.550C>T	NP_001350769.1:p.Gln184Ter
NM_001363840.3:c.550C>T	NP_001350769.1:p.Gln184Ter
NR_134256.1:n.609C>T
NR_134256.2:n.609C>T
ENST00000216194.11:c.592C>T	ENSP00000216194.8:p.Gln198Ter
ENST00000342312.9:c.550C>T	ENSP00000341429.6:p.Gln184Ter
ENST00000477111.2:n.455C>T
ENST00000480775.3:c.550C>T	ENSP00000485462.2:p.Gln184Ter
ENST00000623287.3:c.425C>T	ENSP00000485437.1:p.Pro142Leu
ENST00000623287.4:c.425C>T	ENSP00000485437.1:p.Pro142Leu
ENST00000623632.3:c.505C>T	ENSP00000485288.1:p.Gln169Ter
ENST00000623632.4:c.550C>T	ENSP00000485288.2:p.Gln184Ter
ENST00000623978.3:c.10C>T	ENSP00000485477.1:p.Gln4Ter
ENST00000624474.1:c.470C>T	ENSP00000485286.1:p.Pro157Leu
ENST00000625194.3:c.137C>T
ENST00000625194.4:c.550C>T	ENSP00000485289.2:p.Gln184Ter
ENST00000636124.1:n.242C>T
ENST00000636265.1:c.550C>T	ENSP00000490909.1:p.Gln184Ter
ENST00000636433.1:n.572C>T
ENST00000636714.1:c.550C>T	ENSP00000490946.1:p.Gln184Ter
ENST00000637666.2:c.550C>T	ENSP00000489696.2:p.Gln184Ter
ENST00000637669.1:c.550C>T	ENSP00000489728.1:p.Gln184Ter
ENST00000639722.1:c.*246C>T	ENSP00000492828.1:n.*246C>T
ENST00000674592.1:n.574C>T
ENST00000675622.1:n.3617C>T
ENST00000679609.1:c.425C>T	ENSP00000506592.1:p.Pro142Leu
ENST00000679656.1:n.455C>T
ENST00000679723.1:c.505C>T	ENSP00000505155.1:p.Gln169Ter
ENST00000679845.1:n.673C>T
ENST00000679904.1:n.537C>T
ENST00000680378.1:c.637C>T	ENSP00000505556.1:p.Gln213Ter
ENST00000680444.1:c.550C>T	ENSP00000505298.1:p.Gln184Ter
ENST00000680978.1:c.550C>T	ENSP00000505244.1:p.Gln184Ter
ENST00000681159.1:n.609C>T
XM_011529976.1:c.550C>T	XP_011528278.1:p.Gln184Ter
XM_011529977.1:c.550C>T	XP_011528279.1:p.Gln184Ter
XM_011529977.3:c.550C>T	XP_011528279.1:p.Gln184Ter
XM_011529978.1:c.550C>T	XP_011528280.1:p.Gln184Ter
XM_011529979.1:c.550C>T	XP_011528281.1:p.Gln184Ter
XM_011529980.1:c.550C>T	XP_011528282.1:p.Gln184Ter
XM_011529980.3:c.550C>T	XP_011528282.1:p.Gln184Ter
XM_011529981.1:c.85C>T	XP_011528283.1:p.Gln29Ter
XM_017028636.1:c.505C>T	XP_016884125.1:p.Gln169Ter
XM_017028637.1:c.505C>T	XP_016884126.1:p.Gln169Ter
XM_017028638.1:c.85C>T	XP_016884127.1:p.Gln29Ter
XM_017028639.2:c.85C>T	XP_016884128.1:p.Gln29Ter
XM_024452166.1:c.505C>T	XP_024307934.1:p.Gln169Ter
XR_001755176.2:n.607C>T
XR_002958670.1:n.546C>T
XR_002958671.1:n.607C>T
XR_937824.1:n.609C>T
XR_937825.1:n.609C>T
XR_937825.3:n.607C>T
XR_937826.1:n.609C>T