Canonical Allele Identifier: CA411648324

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760993G>T (hg19) ; chr22:g.40364989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364989G>T , CM000684.2:g.40364989G>T	GRCh38
NC_000022.10:g.40760993G>T , CM000684.1:g.40760993G>T	GRCh37
NC_000022.9:g.39090939G>T	NCBI36
NG_007993.1:g.23490G>T
NG_007993.2:g.23490G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*695G>T	ENSP00000485462.2:n.*695G>T
ENST00000623287.4:c.*726G>T	ENSP00000485437.1:n.*726G>T
ENST00000623632.4:c.992G>T	ENSP00000485288.2:p.Ser331Ile
ENST00000625194.4:c.1343G>T	ENSP00000485289.2:p.Ser448Ile
ENST00000636433.1:n.1323G>T
ENST00000636714.1:c.1301G>T	ENSP00000490946.1:p.Ser434Ile
ENST00000637666.2:c.1191+624G>T	ENSP00000489696.2:n.1191+624G>T
ENST00000637669.1:c.1301G>T	ENSP00000489728.1:p.Ser434Ile
ENST00000639722.1:c.*997G>T	ENSP00000492828.1:n.*997G>T
ENST00000674592.1:n.2815G>T
ENST00000675622.1:n.4368G>T
ENST00000679609.1:c.*911G>T	ENSP00000506592.1:n.*911G>T
ENST00000679656.1:n.1986G>T
ENST00000679723.1:c.1256G>T	ENSP00000505155.1:p.Ser419Ile
ENST00000679845.1:n.1609G>T
ENST00000679904.1:n.1697G>T
ENST00000680378.1:c.1388G>T	ENSP00000505556.1:p.Ser463Ile
ENST00000680444.1:c.*664G>T	ENSP00000505298.1:n.*664G>T
ENST00000680978.1:c.1301G>T	ENSP00000505244.1:p.Ser434Ile
ENST00000681003.1:n.764G>T
ENST00000681159.1:n.2705G>T
ENST00000216194.11:c.1343G>T	ENSP00000216194.8:p.Ser448Ile
ENST00000342312.9:c.1191+624G>T	ENSP00000341429.6:n.1191+624G>T
ENST00000423176.6:c.28G>T
ENST00000623063.3:c.1301G>T MANE Select	ENSP00000485525.1:p.Ser434Ile
ENST00000623387.1:n.432G>T
ENST00000623869.3:c.32G>T	ENSP00000485211.1:p.Ser11Ile
ENST00000624027.1:c.28G>T
ENST00000625194.3:c.930G>T
NM_000026.2:c.1301G>T	NP_000017.1:p.Ser434Ile
NM_001123378.1:c.1191+624G>T	NP_001116850.1:n.1191+624G>T
XM_011529976.1:c.1301G>T	XP_011528278.1:p.Ser434Ile
XM_011529977.1:c.1301G>T	XP_011528279.1:p.Ser434Ile
XM_011529978.1:c.1191+624G>T	XP_011528280.1:n.1191+624G>T
XM_011529979.1:c.1301G>T	XP_011528281.1:p.Ser434Ile
XM_011529980.1:c.1191+624G>T	XP_011528282.1:n.1191+624G>T
XM_011529981.1:c.836G>T	XP_011528283.1:p.Ser279Ile
XM_011529982.1:c.470G>T	XP_011528284.1:p.Ser157Ile
XR_937824.1:n.1391G>T
XR_937825.1:n.1281+624G>T
NM_000026.3:c.1301G>T	NP_000017.1:p.Ser434Ile
NM_001123378.2:c.1191+624G>T	NP_001116850.1:n.1191+624G>T
NM_001317923.1:c.1109G>T	NP_001304852.1:p.Ser370Ile
NM_001363840.1:c.1301G>T	NP_001350769.1:p.Ser434Ile
NR_134256.1:n.1391G>T
XM_011529977.3:c.1301G>T	XP_011528279.1:p.Ser434Ile
XM_011529980.3:c.1191+624G>T	XP_011528282.1:n.1191+624G>T
XM_017028636.1:c.1256G>T	XP_016884125.1:p.Ser419Ile
XM_017028637.1:c.1256G>T	XP_016884126.1:p.Ser419Ile
XM_017028638.1:c.836G>T	XP_016884127.1:p.Ser279Ile
XM_017028639.2:c.836G>T	XP_016884128.1:p.Ser279Ile
XM_017028640.1:c.470G>T	XP_016884129.1:p.Ser157Ile
XM_024452166.1:c.1146+624G>T	XP_024307934.1:n.1146+624G>T
XR_001755176.2:n.1543G>T
XR_002958670.1:n.1328G>T
XR_937825.3:n.1279+624G>T
NM_000026.4:c.1301G>T MANE Select	NP_000017.1:p.Ser434Ile
NM_001363840.2:c.1301G>T	NP_001350769.1:p.Ser434Ile
NM_001123378.3:c.1191+624G>T	NP_001116850.1:n.1191+624G>T
NM_001317923.2:c.1109G>T	NP_001304852.1:p.Ser370Ile
NM_001363840.3:c.1301G>T	NP_001350769.1:p.Ser434Ile
NR_134256.2:n.1391G>T