Canonical Allele Identifier: CA411648158

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760968C>G (hg19) ; chr22:g.40364964C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364964C>G , CM000684.2:g.40364964C>G	GRCh38
NC_000022.10:g.40760968C>G , CM000684.1:g.40760968C>G	GRCh37
NC_000022.9:g.39090914C>G	NCBI36
NG_007993.1:g.23465C>G
NG_007993.2:g.23465C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*670C>G	ENSP00000485462.2:n.*670C>G
ENST00000623287.4:c.*701C>G	ENSP00000485437.1:n.*701C>G
ENST00000623632.4:c.967C>G	ENSP00000485288.2:p.Arg323Gly
ENST00000625194.4:c.1318C>G	ENSP00000485289.2:p.Arg440Gly
ENST00000636433.1:n.1298C>G
ENST00000636714.1:c.1276C>G	ENSP00000490946.1:p.Arg426Gly
ENST00000637666.2:c.1191+599C>G	ENSP00000489696.2:n.1191+599C>G
ENST00000637669.1:c.1276C>G	ENSP00000489728.1:p.Arg426Gly
ENST00000639722.1:c.*972C>G	ENSP00000492828.1:n.*972C>G
ENST00000674592.1:n.2790C>G
ENST00000675622.1:n.4343C>G
ENST00000679609.1:c.*886C>G	ENSP00000506592.1:n.*886C>G
ENST00000679656.1:n.1961C>G
ENST00000679723.1:c.1231C>G	ENSP00000505155.1:p.Arg411Gly
ENST00000679845.1:n.1584C>G
ENST00000679904.1:n.1672C>G
ENST00000680378.1:c.1363C>G	ENSP00000505556.1:p.Arg455Gly
ENST00000680444.1:c.*639C>G	ENSP00000505298.1:n.*639C>G
ENST00000680978.1:c.1276C>G	ENSP00000505244.1:p.Arg426Gly
ENST00000681003.1:n.739C>G
ENST00000681159.1:n.2680C>G
ENST00000216194.11:c.1318C>G	ENSP00000216194.8:p.Arg440Gly
ENST00000342312.9:c.1191+599C>G	ENSP00000341429.6:n.1191+599C>G
ENST00000423176.6:c.3C>G
ENST00000623063.3:c.1276C>G MANE Select	ENSP00000485525.1:p.Arg426Gly
ENST00000623387.1:n.407C>G
ENST00000623869.3:c.7C>G	ENSP00000485211.1:p.Arg3Gly
ENST00000624027.1:c.3C>G
ENST00000625194.3:c.905C>G
NM_000026.2:c.1276C>G	NP_000017.1:p.Arg426Gly
NM_001123378.1:c.1191+599C>G	NP_001116850.1:n.1191+599C>G
XM_011529976.1:c.1276C>G	XP_011528278.1:p.Arg426Gly
XM_011529977.1:c.1276C>G	XP_011528279.1:p.Arg426Gly
XM_011529978.1:c.1191+599C>G	XP_011528280.1:n.1191+599C>G
XM_011529979.1:c.1276C>G	XP_011528281.1:p.Arg426Gly
XM_011529980.1:c.1191+599C>G	XP_011528282.1:n.1191+599C>G
XM_011529981.1:c.811C>G	XP_011528283.1:p.Arg271Gly
XM_011529982.1:c.445C>G	XP_011528284.1:p.Arg149Gly
XR_937824.1:n.1366C>G
XR_937825.1:n.1281+599C>G
NM_000026.3:c.1276C>G	NP_000017.1:p.Arg426Gly
NM_001123378.2:c.1191+599C>G	NP_001116850.1:n.1191+599C>G
NM_001317923.1:c.1084C>G	NP_001304852.1:p.Arg362Gly
NM_001363840.1:c.1276C>G	NP_001350769.1:p.Arg426Gly
NR_134256.1:n.1366C>G
XM_011529977.3:c.1276C>G	XP_011528279.1:p.Arg426Gly
XM_011529980.3:c.1191+599C>G	XP_011528282.1:n.1191+599C>G
XM_017028636.1:c.1231C>G	XP_016884125.1:p.Arg411Gly
XM_017028637.1:c.1231C>G	XP_016884126.1:p.Arg411Gly
XM_017028638.1:c.811C>G	XP_016884127.1:p.Arg271Gly
XM_017028639.2:c.811C>G	XP_016884128.1:p.Arg271Gly
XM_017028640.1:c.445C>G	XP_016884129.1:p.Arg149Gly
XM_024452166.1:c.1146+599C>G	XP_024307934.1:n.1146+599C>G
XR_001755176.2:n.1518C>G
XR_002958670.1:n.1303C>G
XR_937825.3:n.1279+599C>G
NM_000026.4:c.1276C>G MANE Select	NP_000017.1:p.Arg426Gly
NM_001363840.2:c.1276C>G	NP_001350769.1:p.Arg426Gly
NM_001123378.3:c.1191+599C>G	NP_001116850.1:n.1191+599C>G
NM_001317923.2:c.1084C>G	NP_001304852.1:p.Arg362Gly
NM_001363840.3:c.1276C>G	NP_001350769.1:p.Arg426Gly
NR_134256.2:n.1366C>G