Canonical Allele Identifier: CA514615676

Gene: ADSL

Linked Data

• gnomAD v4: 22-40365047-C-G
• MyVariant Identifiers: chr22:g.40761051C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365047C>G , CM000684.2:g.40365047C>G	GRCh38
NC_000022.10:g.40761051C>G , CM000684.1:g.40761051C>G	GRCh37
NC_000022.9:g.39090997C>G	NCBI36
NG_007993.1:g.23548C>G
NG_007993.2:g.23548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*753C>G	ENSP00000485462.2:n.*753C>G
ENST00000623287.4:c.*784C>G	ENSP00000485437.1:n.*784C>G
ENST00000623632.4:c.1050C>G	ENSP00000485288.2:p.Ala350=
ENST00000625194.4:c.1401C>G	ENSP00000485289.2:p.Ala467=
ENST00000636433.1:n.1381C>G
ENST00000636714.1:c.1359C>G	ENSP00000490946.1:p.Ala453=
ENST00000637666.2:c.1191+682C>G	ENSP00000489696.2:n.1191+682C>G
ENST00000637669.1:c.1359C>G	ENSP00000489728.1:p.Ala453=
ENST00000639722.1:c.*1055C>G	ENSP00000492828.1:n.*1055C>G
ENST00000674592.1:n.2873C>G
ENST00000675622.1:n.4426C>G
ENST00000679609.1:c.*969C>G	ENSP00000506592.1:n.*969C>G
ENST00000679656.1:n.2044C>G
ENST00000679723.1:c.1314C>G	ENSP00000505155.1:p.Ala438=
ENST00000679845.1:n.1667C>G
ENST00000679904.1:n.1755C>G
ENST00000680378.1:c.1446C>G	ENSP00000505556.1:p.Ala482=
ENST00000680444.1:c.*722C>G	ENSP00000505298.1:n.*722C>G
ENST00000680978.1:c.1359C>G	ENSP00000505244.1:p.Ala453=
ENST00000681003.1:n.822C>G
ENST00000681159.1:n.2763C>G
ENST00000216194.11:c.1401C>G	ENSP00000216194.8:p.Ala467=
ENST00000342312.9:c.1191+682C>G	ENSP00000341429.6:n.1191+682C>G
ENST00000423176.6:c.86C>G
ENST00000498234.2:c.17C>G
ENST00000623063.3:c.1359C>G MANE Select	ENSP00000485525.1:p.Ala453=
ENST00000623387.1:n.490C>G
ENST00000623869.3:c.90C>G	ENSP00000485211.1:p.Ala30=
ENST00000624027.1:c.86C>G
ENST00000625194.3:c.988C>G
NM_000026.2:c.1359C>G	NP_000017.1:p.Ala453=
NM_001123378.1:c.1191+682C>G	NP_001116850.1:n.1191+682C>G
XM_011529976.1:c.1359C>G	XP_011528278.1:p.Ala453=
XM_011529977.1:c.1359C>G	XP_011528279.1:p.Ala453=
XM_011529978.1:c.1191+682C>G	XP_011528280.1:n.1191+682C>G
XM_011529979.1:c.1359C>G	XP_011528281.1:p.Ala453=
XM_011529980.1:c.1191+682C>G	XP_011528282.1:n.1191+682C>G
XM_011529981.1:c.894C>G	XP_011528283.1:p.Ala298=
XM_011529982.1:c.528C>G	XP_011528284.1:p.Ala176=
XR_937824.1:n.1449C>G
XR_937825.1:n.1281+682C>G
NM_000026.3:c.1359C>G	NP_000017.1:p.Ala453=
NM_001123378.2:c.1191+682C>G	NP_001116850.1:n.1191+682C>G
NM_001317923.1:c.1167C>G	NP_001304852.1:p.Ala389=
NM_001363840.1:c.1359C>G	NP_001350769.1:p.Ala453=
NR_134256.1:n.1449C>G
XM_011529977.3:c.1359C>G	XP_011528279.1:p.Ala453=
XM_011529980.3:c.1191+682C>G	XP_011528282.1:n.1191+682C>G
XM_017028636.1:c.1314C>G	XP_016884125.1:p.Ala438=
XM_017028637.1:c.1314C>G	XP_016884126.1:p.Ala438=
XM_017028638.1:c.894C>G	XP_016884127.1:p.Ala298=
XM_017028639.2:c.894C>G	XP_016884128.1:p.Ala298=
XM_017028640.1:c.528C>G	XP_016884129.1:p.Ala176=
XM_024452166.1:c.1146+682C>G	XP_024307934.1:n.1146+682C>G
XR_001755176.2:n.1601C>G
XR_002958670.1:n.1386C>G
XR_937825.3:n.1279+682C>G
NM_000026.4:c.1359C>G MANE Select	NP_000017.1:p.Ala453=
NM_001363840.2:c.1359C>G	NP_001350769.1:p.Ala453=
NM_001123378.3:c.1191+682C>G	NP_001116850.1:n.1191+682C>G
NM_001317923.2:c.1167C>G	NP_001304852.1:p.Ala389=
NM_001363840.3:c.1359C>G	NP_001350769.1:p.Ala453=
NR_134256.2:n.1449C>G