Canonical Allele Identifier: CA411647765

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760926T>C (hg19) ; chr22:g.40364922T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364922T>C , CM000684.2:g.40364922T>C	GRCh38
NC_000022.10:g.40760926T>C , CM000684.1:g.40760926T>C	GRCh37
NC_000022.9:g.39090872T>C	NCBI36
NG_007993.1:g.23423T>C
NG_007993.2:g.23423T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*628T>C	ENSP00000485462.2:n.*628T>C
ENST00000623287.4:c.*659T>C	ENSP00000485437.1:n.*659T>C
ENST00000623632.4:c.925T>C	ENSP00000485288.2:p.Ser309Pro
ENST00000625194.4:c.1276T>C	ENSP00000485289.2:p.Ser426Pro
ENST00000636433.1:n.1256T>C
ENST00000636714.1:c.1234T>C	ENSP00000490946.1:p.Ser412Pro
ENST00000637666.2:c.1191+557T>C	ENSP00000489696.2:n.1191+557T>C
ENST00000637669.1:c.1234T>C	ENSP00000489728.1:p.Ser412Pro
ENST00000639722.1:c.*930T>C	ENSP00000492828.1:n.*930T>C
ENST00000674592.1:n.2748T>C
ENST00000675622.1:n.4301T>C
ENST00000679609.1:c.*844T>C	ENSP00000506592.1:n.*844T>C
ENST00000679656.1:n.1919T>C
ENST00000679723.1:c.1189T>C	ENSP00000505155.1:p.Ser397Pro
ENST00000679845.1:n.1542T>C
ENST00000679904.1:n.1630T>C
ENST00000680378.1:c.1321T>C	ENSP00000505556.1:p.Ser441Pro
ENST00000680444.1:c.*597T>C	ENSP00000505298.1:n.*597T>C
ENST00000680978.1:c.1234T>C	ENSP00000505244.1:p.Ser412Pro
ENST00000681003.1:n.697T>C
ENST00000681159.1:n.2638T>C
ENST00000216194.11:c.1276T>C	ENSP00000216194.8:p.Ser426Pro
ENST00000342312.9:c.1191+557T>C	ENSP00000341429.6:n.1191+557T>C
ENST00000623063.3:c.1234T>C MANE Select	ENSP00000485525.1:p.Ser412Pro
ENST00000623387.1:n.365T>C
ENST00000625194.3:c.863T>C
NM_000026.2:c.1234T>C	NP_000017.1:p.Ser412Pro
NM_001123378.1:c.1191+557T>C	NP_001116850.1:n.1191+557T>C
XM_011529976.1:c.1234T>C	XP_011528278.1:p.Ser412Pro
XM_011529977.1:c.1234T>C	XP_011528279.1:p.Ser412Pro
XM_011529978.1:c.1191+557T>C	XP_011528280.1:n.1191+557T>C
XM_011529979.1:c.1234T>C	XP_011528281.1:p.Ser412Pro
XM_011529980.1:c.1191+557T>C	XP_011528282.1:n.1191+557T>C
XM_011529981.1:c.769T>C	XP_011528283.1:p.Ser257Pro
XM_011529982.1:c.403T>C	XP_011528284.1:p.Ser135Pro
XR_937824.1:n.1324T>C
XR_937825.1:n.1281+557T>C
NM_000026.3:c.1234T>C	NP_000017.1:p.Ser412Pro
NM_001123378.2:c.1191+557T>C	NP_001116850.1:n.1191+557T>C
NM_001317923.1:c.1042T>C	NP_001304852.1:p.Ser348Pro
NM_001363840.1:c.1234T>C	NP_001350769.1:p.Ser412Pro
NR_134256.1:n.1324T>C
XM_011529977.3:c.1234T>C	XP_011528279.1:p.Ser412Pro
XM_011529980.3:c.1191+557T>C	XP_011528282.1:n.1191+557T>C
XM_017028636.1:c.1189T>C	XP_016884125.1:p.Ser397Pro
XM_017028637.1:c.1189T>C	XP_016884126.1:p.Ser397Pro
XM_017028638.1:c.769T>C	XP_016884127.1:p.Ser257Pro
XM_017028639.2:c.769T>C	XP_016884128.1:p.Ser257Pro
XM_017028640.1:c.403T>C	XP_016884129.1:p.Ser135Pro
XM_024452166.1:c.1146+557T>C	XP_024307934.1:n.1146+557T>C
XR_001755176.2:n.1476T>C
XR_002958670.1:n.1261T>C
XR_937825.3:n.1279+557T>C
NM_000026.4:c.1234T>C MANE Select	NP_000017.1:p.Ser412Pro
NM_001363840.2:c.1234T>C	NP_001350769.1:p.Ser412Pro
NM_001123378.3:c.1191+557T>C	NP_001116850.1:n.1191+557T>C
NM_001317923.2:c.1042T>C	NP_001304852.1:p.Ser348Pro
NM_001363840.3:c.1234T>C	NP_001350769.1:p.Ser412Pro
NR_134256.2:n.1324T>C