Canonical Allele Identifier: CA514615656

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40761027T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365023T>C , CM000684.2:g.40365023T>C	GRCh38
NC_000022.10:g.40761027T>C , CM000684.1:g.40761027T>C	GRCh37
NC_000022.9:g.39090973T>C	NCBI36
NG_007993.1:g.23524T>C
NG_007993.2:g.23524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*729T>C	ENSP00000485462.2:n.*729T>C
ENST00000623287.4:c.*760T>C	ENSP00000485437.1:n.*760T>C
ENST00000623632.4:c.1026T>C	ENSP00000485288.2:p.Asp342=
ENST00000625194.4:c.1377T>C	ENSP00000485289.2:p.Asp459=
ENST00000636433.1:n.1357T>C
ENST00000636714.1:c.1335T>C	ENSP00000490946.1:p.Asp445=
ENST00000637666.2:c.1191+658T>C	ENSP00000489696.2:n.1191+658T>C
ENST00000637669.1:c.1335T>C	ENSP00000489728.1:p.Asp445=
ENST00000639722.1:c.*1031T>C	ENSP00000492828.1:n.*1031T>C
ENST00000674592.1:n.2849T>C
ENST00000675622.1:n.4402T>C
ENST00000679609.1:c.*945T>C	ENSP00000506592.1:n.*945T>C
ENST00000679656.1:n.2020T>C
ENST00000679723.1:c.1290T>C	ENSP00000505155.1:p.Asp430=
ENST00000679845.1:n.1643T>C
ENST00000679904.1:n.1731T>C
ENST00000680378.1:c.1422T>C	ENSP00000505556.1:p.Asp474=
ENST00000680444.1:c.*698T>C	ENSP00000505298.1:n.*698T>C
ENST00000680978.1:c.1335T>C	ENSP00000505244.1:p.Asp445=
ENST00000681003.1:n.798T>C
ENST00000681159.1:n.2739T>C
ENST00000216194.11:c.1377T>C	ENSP00000216194.8:p.Asp459=
ENST00000342312.9:c.1191+658T>C	ENSP00000341429.6:n.1191+658T>C
ENST00000423176.6:c.62T>C
ENST00000623063.3:c.1335T>C MANE Select	ENSP00000485525.1:p.Asp445=
ENST00000623387.1:n.466T>C
ENST00000623869.3:c.66T>C	ENSP00000485211.1:p.Asp22=
ENST00000624027.1:c.62T>C
ENST00000625194.3:c.964T>C
NM_000026.2:c.1335T>C	NP_000017.1:p.Asp445=
NM_001123378.1:c.1191+658T>C	NP_001116850.1:n.1191+658T>C
XM_011529976.1:c.1335T>C	XP_011528278.1:p.Asp445=
XM_011529977.1:c.1335T>C	XP_011528279.1:p.Asp445=
XM_011529978.1:c.1191+658T>C	XP_011528280.1:n.1191+658T>C
XM_011529979.1:c.1335T>C	XP_011528281.1:p.Asp445=
XM_011529980.1:c.1191+658T>C	XP_011528282.1:n.1191+658T>C
XM_011529981.1:c.870T>C	XP_011528283.1:p.Asp290=
XM_011529982.1:c.504T>C	XP_011528284.1:p.Asp168=
XR_937824.1:n.1425T>C
XR_937825.1:n.1281+658T>C
NM_000026.3:c.1335T>C	NP_000017.1:p.Asp445=
NM_001123378.2:c.1191+658T>C	NP_001116850.1:n.1191+658T>C
NM_001317923.1:c.1143T>C	NP_001304852.1:p.Asp381=
NM_001363840.1:c.1335T>C	NP_001350769.1:p.Asp445=
NR_134256.1:n.1425T>C
XM_011529977.3:c.1335T>C	XP_011528279.1:p.Asp445=
XM_011529980.3:c.1191+658T>C	XP_011528282.1:n.1191+658T>C
XM_017028636.1:c.1290T>C	XP_016884125.1:p.Asp430=
XM_017028637.1:c.1290T>C	XP_016884126.1:p.Asp430=
XM_017028638.1:c.870T>C	XP_016884127.1:p.Asp290=
XM_017028639.2:c.870T>C	XP_016884128.1:p.Asp290=
XM_017028640.1:c.504T>C	XP_016884129.1:p.Asp168=
XM_024452166.1:c.1146+658T>C	XP_024307934.1:n.1146+658T>C
XR_001755176.2:n.1577T>C
XR_002958670.1:n.1362T>C
XR_937825.3:n.1279+658T>C
NM_000026.4:c.1335T>C MANE Select	NP_000017.1:p.Asp445=
NM_001363840.2:c.1335T>C	NP_001350769.1:p.Asp445=
NM_001123378.3:c.1191+658T>C	NP_001116850.1:n.1191+658T>C
NM_001317923.2:c.1143T>C	NP_001304852.1:p.Asp381=
NM_001363840.3:c.1335T>C	NP_001350769.1:p.Asp445=
NR_134256.2:n.1425T>C