Canonical Allele Identifier: CA411648402

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40761008A>T (hg19) ; chr22:g.40365004A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365004A>T , CM000684.2:g.40365004A>T	GRCh38
NC_000022.10:g.40761008A>T , CM000684.1:g.40761008A>T	GRCh37
NC_000022.9:g.39090954A>T	NCBI36
NG_007993.1:g.23505A>T
NG_007993.2:g.23505A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*710A>T	ENSP00000485462.2:n.*710A>T
ENST00000623287.4:c.*741A>T	ENSP00000485437.1:n.*741A>T
ENST00000623632.4:c.1007A>T	ENSP00000485288.2:p.Gln336Leu
ENST00000625194.4:c.1358A>T	ENSP00000485289.2:p.Gln453Leu
ENST00000636433.1:n.1338A>T
ENST00000636714.1:c.1316A>T	ENSP00000490946.1:p.Gln439Leu
ENST00000637666.2:c.1191+639A>T	ENSP00000489696.2:n.1191+639A>T
ENST00000637669.1:c.1316A>T	ENSP00000489728.1:p.Gln439Leu
ENST00000639722.1:c.*1012A>T	ENSP00000492828.1:n.*1012A>T
ENST00000674592.1:n.2830A>T
ENST00000675622.1:n.4383A>T
ENST00000679609.1:c.*926A>T	ENSP00000506592.1:n.*926A>T
ENST00000679656.1:n.2001A>T
ENST00000679723.1:c.1271A>T	ENSP00000505155.1:p.Gln424Leu
ENST00000679845.1:n.1624A>T
ENST00000679904.1:n.1712A>T
ENST00000680378.1:c.1403A>T	ENSP00000505556.1:p.Gln468Leu
ENST00000680444.1:c.*679A>T	ENSP00000505298.1:n.*679A>T
ENST00000680978.1:c.1316A>T	ENSP00000505244.1:p.Gln439Leu
ENST00000681003.1:n.779A>T
ENST00000681159.1:n.2720A>T
ENST00000216194.11:c.1358A>T	ENSP00000216194.8:p.Gln453Leu
ENST00000342312.9:c.1191+639A>T	ENSP00000341429.6:n.1191+639A>T
ENST00000423176.6:c.43A>T
ENST00000623063.3:c.1316A>T MANE Select	ENSP00000485525.1:p.Gln439Leu
ENST00000623387.1:n.447A>T
ENST00000623869.3:c.47A>T	ENSP00000485211.1:p.Gln16Leu
ENST00000624027.1:c.43A>T
ENST00000625194.3:c.945A>T
NM_000026.2:c.1316A>T	NP_000017.1:p.Gln439Leu
NM_001123378.1:c.1191+639A>T	NP_001116850.1:n.1191+639A>T
XM_011529976.1:c.1316A>T	XP_011528278.1:p.Gln439Leu
XM_011529977.1:c.1316A>T	XP_011528279.1:p.Gln439Leu
XM_011529978.1:c.1191+639A>T	XP_011528280.1:n.1191+639A>T
XM_011529979.1:c.1316A>T	XP_011528281.1:p.Gln439Leu
XM_011529980.1:c.1191+639A>T	XP_011528282.1:n.1191+639A>T
XM_011529981.1:c.851A>T	XP_011528283.1:p.Gln284Leu
XM_011529982.1:c.485A>T	XP_011528284.1:p.Gln162Leu
XR_937824.1:n.1406A>T
XR_937825.1:n.1281+639A>T
NM_000026.3:c.1316A>T	NP_000017.1:p.Gln439Leu
NM_001123378.2:c.1191+639A>T	NP_001116850.1:n.1191+639A>T
NM_001317923.1:c.1124A>T	NP_001304852.1:p.Gln375Leu
NM_001363840.1:c.1316A>T	NP_001350769.1:p.Gln439Leu
NR_134256.1:n.1406A>T
XM_011529977.3:c.1316A>T	XP_011528279.1:p.Gln439Leu
XM_011529980.3:c.1191+639A>T	XP_011528282.1:n.1191+639A>T
XM_017028636.1:c.1271A>T	XP_016884125.1:p.Gln424Leu
XM_017028637.1:c.1271A>T	XP_016884126.1:p.Gln424Leu
XM_017028638.1:c.851A>T	XP_016884127.1:p.Gln284Leu
XM_017028639.2:c.851A>T	XP_016884128.1:p.Gln284Leu
XM_017028640.1:c.485A>T	XP_016884129.1:p.Gln162Leu
XM_024452166.1:c.1146+639A>T	XP_024307934.1:n.1146+639A>T
XR_001755176.2:n.1558A>T
XR_002958670.1:n.1343A>T
XR_937825.3:n.1279+639A>T
NM_000026.4:c.1316A>T MANE Select	NP_000017.1:p.Gln439Leu
NM_001363840.2:c.1316A>T	NP_001350769.1:p.Gln439Leu
NM_001123378.3:c.1191+639A>T	NP_001116850.1:n.1191+639A>T
NM_001317923.2:c.1124A>T	NP_001304852.1:p.Gln375Leu
NM_001363840.3:c.1316A>T	NP_001350769.1:p.Gln439Leu
NR_134256.2:n.1406A>T