Canonical Allele Identifier: CA411648178

Gene: ADSL

Linked Data

• gnomAD v4: 22-40364968-T-C
• MyVariant Identifiers: chr22:g.40760972T>C (hg19) ; chr22:g.40364968T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364968T>C , CM000684.2:g.40364968T>C	GRCh38
NC_000022.10:g.40760972T>C , CM000684.1:g.40760972T>C	GRCh37
NC_000022.9:g.39090918T>C	NCBI36
NG_007993.1:g.23469T>C
NG_007993.2:g.23469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*674T>C	ENSP00000485462.2:n.*674T>C
ENST00000623287.4:c.*705T>C	ENSP00000485437.1:n.*705T>C
ENST00000623632.4:c.971T>C	ENSP00000485288.2:p.Ile324Thr
ENST00000625194.4:c.1322T>C	ENSP00000485289.2:p.Ile441Thr
ENST00000636433.1:n.1302T>C
ENST00000636714.1:c.1280T>C	ENSP00000490946.1:p.Ile427Thr
ENST00000637666.2:c.1191+603T>C	ENSP00000489696.2:n.1191+603T>C
ENST00000637669.1:c.1280T>C	ENSP00000489728.1:p.Ile427Thr
ENST00000639722.1:c.*976T>C	ENSP00000492828.1:n.*976T>C
ENST00000674592.1:n.2794T>C
ENST00000675622.1:n.4347T>C
ENST00000679609.1:c.*890T>C	ENSP00000506592.1:n.*890T>C
ENST00000679656.1:n.1965T>C
ENST00000679723.1:c.1235T>C	ENSP00000505155.1:p.Ile412Thr
ENST00000679845.1:n.1588T>C
ENST00000679904.1:n.1676T>C
ENST00000680378.1:c.1367T>C	ENSP00000505556.1:p.Ile456Thr
ENST00000680444.1:c.*643T>C	ENSP00000505298.1:n.*643T>C
ENST00000680978.1:c.1280T>C	ENSP00000505244.1:p.Ile427Thr
ENST00000681003.1:n.743T>C
ENST00000681159.1:n.2684T>C
ENST00000216194.11:c.1322T>C	ENSP00000216194.8:p.Ile441Thr
ENST00000342312.9:c.1191+603T>C	ENSP00000341429.6:n.1191+603T>C
ENST00000423176.6:c.7T>C
ENST00000623063.3:c.1280T>C MANE Select	ENSP00000485525.1:p.Ile427Thr
ENST00000623387.1:n.411T>C
ENST00000623869.3:c.11T>C	ENSP00000485211.1:p.Ile4Thr
ENST00000624027.1:c.7T>C
ENST00000625194.3:c.909T>C
NM_000026.2:c.1280T>C	NP_000017.1:p.Ile427Thr
NM_001123378.1:c.1191+603T>C	NP_001116850.1:n.1191+603T>C
XM_011529976.1:c.1280T>C	XP_011528278.1:p.Ile427Thr
XM_011529977.1:c.1280T>C	XP_011528279.1:p.Ile427Thr
XM_011529978.1:c.1191+603T>C	XP_011528280.1:n.1191+603T>C
XM_011529979.1:c.1280T>C	XP_011528281.1:p.Ile427Thr
XM_011529980.1:c.1191+603T>C	XP_011528282.1:n.1191+603T>C
XM_011529981.1:c.815T>C	XP_011528283.1:p.Ile272Thr
XM_011529982.1:c.449T>C	XP_011528284.1:p.Ile150Thr
XR_937824.1:n.1370T>C
XR_937825.1:n.1281+603T>C
NM_000026.3:c.1280T>C	NP_000017.1:p.Ile427Thr
NM_001123378.2:c.1191+603T>C	NP_001116850.1:n.1191+603T>C
NM_001317923.1:c.1088T>C	NP_001304852.1:p.Ile363Thr
NM_001363840.1:c.1280T>C	NP_001350769.1:p.Ile427Thr
NR_134256.1:n.1370T>C
XM_011529977.3:c.1280T>C	XP_011528279.1:p.Ile427Thr
XM_011529980.3:c.1191+603T>C	XP_011528282.1:n.1191+603T>C
XM_017028636.1:c.1235T>C	XP_016884125.1:p.Ile412Thr
XM_017028637.1:c.1235T>C	XP_016884126.1:p.Ile412Thr
XM_017028638.1:c.815T>C	XP_016884127.1:p.Ile272Thr
XM_017028639.2:c.815T>C	XP_016884128.1:p.Ile272Thr
XM_017028640.1:c.449T>C	XP_016884129.1:p.Ile150Thr
XM_024452166.1:c.1146+603T>C	XP_024307934.1:n.1146+603T>C
XR_001755176.2:n.1522T>C
XR_002958670.1:n.1307T>C
XR_937825.3:n.1279+603T>C
NM_000026.4:c.1280T>C MANE Select	NP_000017.1:p.Ile427Thr
NM_001363840.2:c.1280T>C	NP_001350769.1:p.Ile427Thr
NM_001123378.3:c.1191+603T>C	NP_001116850.1:n.1191+603T>C
NM_001317923.2:c.1088T>C	NP_001304852.1:p.Ile363Thr
NM_001363840.3:c.1280T>C	NP_001350769.1:p.Ile427Thr
NR_134256.2:n.1370T>C