Canonical Allele Identifier: CA411648786

Gene: ADSL

Linked Data

• gnomAD v4: 22-40365055-A-T
• MyVariant Identifiers: chr22:g.40761059A>T (hg19) ; chr22:g.40365055A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365055A>T , CM000684.2:g.40365055A>T	GRCh38
NC_000022.10:g.40761059A>T , CM000684.1:g.40761059A>T	GRCh37
NC_000022.9:g.39091005A>T	NCBI36
NG_007993.1:g.23556A>T
NG_007993.2:g.23556A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*761A>T	ENSP00000485462.2:n.*761A>T
ENST00000623287.4:c.*792A>T	ENSP00000485437.1:n.*792A>T
ENST00000623632.4:c.1058A>T	ENSP00000485288.2:p.Gln353Leu
ENST00000625194.4:c.1409A>T	ENSP00000485289.2:p.Gln470Leu
ENST00000636433.1:n.1389A>T
ENST00000636714.1:c.1367A>T	ENSP00000490946.1:p.Gln456Leu
ENST00000637666.2:c.1191+690A>T	ENSP00000489696.2:n.1191+690A>T
ENST00000637669.1:c.1367A>T	ENSP00000489728.1:p.Gln456Leu
ENST00000639722.1:c.*1063A>T	ENSP00000492828.1:n.*1063A>T
ENST00000674592.1:n.2881A>T
ENST00000675622.1:n.4434A>T
ENST00000679609.1:c.*977A>T	ENSP00000506592.1:n.*977A>T
ENST00000679656.1:n.2052A>T
ENST00000679723.1:c.1322A>T	ENSP00000505155.1:p.Gln441Leu
ENST00000679845.1:n.1675A>T
ENST00000679904.1:n.1763A>T
ENST00000680378.1:c.1454A>T	ENSP00000505556.1:p.Gln485Leu
ENST00000680444.1:c.*730A>T	ENSP00000505298.1:n.*730A>T
ENST00000680978.1:c.1367A>T	ENSP00000505244.1:p.Gln456Leu
ENST00000681003.1:n.830A>T
ENST00000681159.1:n.2771A>T
ENST00000216194.11:c.1409A>T	ENSP00000216194.8:p.Gln470Leu
ENST00000342312.9:c.1191+690A>T	ENSP00000341429.6:n.1191+690A>T
ENST00000423176.6:c.94A>T
ENST00000498234.2:c.25A>T
ENST00000623063.3:c.1367A>T MANE Select	ENSP00000485525.1:p.Gln456Leu
ENST00000623387.1:n.498A>T
ENST00000623869.3:c.98A>T	ENSP00000485211.1:p.Gln33Leu
ENST00000624027.1:c.94A>T
ENST00000625194.3:c.996A>T
NM_000026.2:c.1367A>T	NP_000017.1:p.Gln456Leu
NM_001123378.1:c.1191+690A>T	NP_001116850.1:n.1191+690A>T
XM_011529976.1:c.1367A>T	XP_011528278.1:p.Gln456Leu
XM_011529977.1:c.1367A>T	XP_011528279.1:p.Gln456Leu
XM_011529978.1:c.1191+690A>T	XP_011528280.1:n.1191+690A>T
XM_011529979.1:c.1367A>T	XP_011528281.1:p.Gln456Leu
XM_011529980.1:c.1191+690A>T	XP_011528282.1:n.1191+690A>T
XM_011529981.1:c.902A>T	XP_011528283.1:p.Gln301Leu
XM_011529982.1:c.536A>T	XP_011528284.1:p.Gln179Leu
XR_937824.1:n.1457A>T
XR_937825.1:n.1281+690A>T
NM_000026.3:c.1367A>T	NP_000017.1:p.Gln456Leu
NM_001123378.2:c.1191+690A>T	NP_001116850.1:n.1191+690A>T
NM_001317923.1:c.1175A>T	NP_001304852.1:p.Gln392Leu
NM_001363840.1:c.1367A>T	NP_001350769.1:p.Gln456Leu
NR_134256.1:n.1457A>T
XM_011529977.3:c.1367A>T	XP_011528279.1:p.Gln456Leu
XM_011529980.3:c.1191+690A>T	XP_011528282.1:n.1191+690A>T
XM_017028636.1:c.1322A>T	XP_016884125.1:p.Gln441Leu
XM_017028637.1:c.1322A>T	XP_016884126.1:p.Gln441Leu
XM_017028638.1:c.902A>T	XP_016884127.1:p.Gln301Leu
XM_017028639.2:c.902A>T	XP_016884128.1:p.Gln301Leu
XM_017028640.1:c.536A>T	XP_016884129.1:p.Gln179Leu
XM_024452166.1:c.1146+690A>T	XP_024307934.1:n.1146+690A>T
XR_001755176.2:n.1609A>T
XR_002958670.1:n.1394A>T
XR_937825.3:n.1279+690A>T
NM_000026.4:c.1367A>T MANE Select	NP_000017.1:p.Gln456Leu
NM_001363840.2:c.1367A>T	NP_001350769.1:p.Gln456Leu
NM_001123378.3:c.1191+690A>T	NP_001116850.1:n.1191+690A>T
NM_001317923.2:c.1175A>T	NP_001304852.1:p.Gln392Leu
NM_001363840.3:c.1367A>T	NP_001350769.1:p.Gln456Leu
NR_134256.2:n.1457A>T