Canonical Allele Identifier: CA411641016

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40754963T>A (hg19) ; chr22:g.40358959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40358959T>A , CM000684.2:g.40358959T>A	GRCh38
NC_000022.10:g.40754963T>A , CM000684.1:g.40754963T>A	GRCh37
NC_000022.9:g.39084909T>A	NCBI36
NG_007993.1:g.17460T>A
NG_007993.2:g.17460T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.578T>A	ENSP00000485462.2:p.Leu193Gln
ENST00000623287.4:c.*3T>A	ENSP00000485437.1:n.*3T>A
ENST00000623632.4:c.578T>A	ENSP00000485288.2:p.Leu193Gln
ENST00000625194.4:c.578T>A	ENSP00000485289.2:p.Leu193Gln
ENST00000636124.1:n.270T>A
ENST00000636265.1:c.578T>A	ENSP00000490909.1:p.Leu193Gln
ENST00000636433.1:n.600T>A
ENST00000636714.1:c.578T>A	ENSP00000490946.1:p.Leu193Gln
ENST00000637666.2:c.578T>A	ENSP00000489696.2:p.Leu193Gln
ENST00000637669.1:c.578T>A	ENSP00000489728.1:p.Leu193Gln
ENST00000639722.1:c.*274T>A	ENSP00000492828.1:n.*274T>A
ENST00000674592.1:n.602T>A
ENST00000675622.1:n.3645T>A
ENST00000679609.1:c.*3T>A	ENSP00000506592.1:n.*3T>A
ENST00000679656.1:n.483T>A
ENST00000679723.1:c.533T>A	ENSP00000505155.1:p.Leu178Gln
ENST00000679845.1:n.701T>A
ENST00000679904.1:n.565T>A
ENST00000680378.1:c.665T>A	ENSP00000505556.1:p.Leu222Gln
ENST00000680444.1:c.578T>A	ENSP00000505298.1:p.Leu193Gln
ENST00000680978.1:c.578T>A	ENSP00000505244.1:p.Leu193Gln
ENST00000681159.1:n.637T>A
ENST00000216194.11:c.620T>A	ENSP00000216194.8:p.Leu207Gln
ENST00000342312.9:c.578T>A	ENSP00000341429.6:p.Leu193Gln
ENST00000477111.2:n.483T>A
ENST00000623063.3:c.578T>A MANE Select	ENSP00000485525.1:p.Leu193Gln
ENST00000623287.3:c.*3T>A	ENSP00000485437.1:n.*3T>A
ENST00000623632.3:c.533T>A	ENSP00000485288.1:p.Leu178Gln
ENST00000623978.3:c.38T>A	ENSP00000485477.1:p.Leu13Gln
ENST00000624474.1:c.*3T>A	ENSP00000485286.1:n.*3T>A
ENST00000625194.3:c.165T>A
NM_000026.2:c.578T>A	NP_000017.1:p.Leu193Gln
NM_001123378.1:c.578T>A	NP_001116850.1:p.Leu193Gln
XM_011529976.1:c.578T>A	XP_011528278.1:p.Leu193Gln
XM_011529977.1:c.578T>A	XP_011528279.1:p.Leu193Gln
XM_011529978.1:c.578T>A	XP_011528280.1:p.Leu193Gln
XM_011529979.1:c.578T>A	XP_011528281.1:p.Leu193Gln
XM_011529980.1:c.578T>A	XP_011528282.1:p.Leu193Gln
XM_011529981.1:c.113T>A	XP_011528283.1:p.Leu38Gln
XR_937824.1:n.637T>A
XR_937825.1:n.637T>A
XR_937826.1:n.637T>A
NM_000026.3:c.578T>A	NP_000017.1:p.Leu193Gln
NM_001123378.2:c.578T>A	NP_001116850.1:p.Leu193Gln
NM_001317923.1:c.386T>A	NP_001304852.1:p.Leu129Gln
NM_001363840.1:c.578T>A	NP_001350769.1:p.Leu193Gln
NR_134256.1:n.637T>A
XM_011529977.3:c.578T>A	XP_011528279.1:p.Leu193Gln
XM_011529980.3:c.578T>A	XP_011528282.1:p.Leu193Gln
XM_017028636.1:c.533T>A	XP_016884125.1:p.Leu178Gln
XM_017028637.1:c.533T>A	XP_016884126.1:p.Leu178Gln
XM_017028638.1:c.113T>A	XP_016884127.1:p.Leu38Gln
XM_017028639.2:c.113T>A	XP_016884128.1:p.Leu38Gln
XM_024452166.1:c.533T>A	XP_024307934.1:p.Leu178Gln
XR_001755176.2:n.635T>A
XR_002958670.1:n.574T>A
XR_002958671.1:n.635T>A
XR_937825.3:n.635T>A
NM_000026.4:c.578T>A MANE Select	NP_000017.1:p.Leu193Gln
NM_001363840.2:c.578T>A	NP_001350769.1:p.Leu193Gln
NM_001123378.3:c.578T>A	NP_001116850.1:p.Leu193Gln
NM_001317923.2:c.386T>A	NP_001304852.1:p.Leu129Gln
NM_001363840.3:c.578T>A	NP_001350769.1:p.Leu193Gln
NR_134256.2:n.637T>A