Canonical Allele Identifier: CA10247970

Gene: ADSL

Linked Data

• ClinVar Variation Id: 1036030
• ClinVar RCV Id: RCV001338975
• dbSNP Id: rs372650859
• ExAC: 22:40760944 G / C
• gnomAD v2: 22-40760944-G-C
• gnomAD v3: 22-40364940-G-C
• gnomAD v4: 22-40364940-G-C
• MyVariant Identifiers: chr22:g.40760944G>C (hg19) ; chr22:g.40364940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364940G>C , CM000684.2:g.40364940G>C	GRCh38
NC_000022.10:g.40760944G>C , CM000684.1:g.40760944G>C	GRCh37
NC_000022.9:g.39090890G>C	NCBI36
NG_007993.1:g.23441G>C
NG_007993.2:g.23441G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*646G>C	ENSP00000485462.2:n.*646G>C
ENST00000623287.4:c.*677G>C	ENSP00000485437.1:n.*677G>C
ENST00000623632.4:c.943G>C	ENSP00000485288.2:p.Gly315Arg
ENST00000625194.4:c.1294G>C	ENSP00000485289.2:p.Gly432Arg
ENST00000636433.1:n.1274G>C
ENST00000636714.1:c.1252G>C	ENSP00000490946.1:p.Gly418Arg
ENST00000637666.2:c.1191+575G>C	ENSP00000489696.2:n.1191+575G>C
ENST00000637669.1:c.1252G>C	ENSP00000489728.1:p.Gly418Arg
ENST00000639722.1:c.*948G>C	ENSP00000492828.1:n.*948G>C
ENST00000674592.1:n.2766G>C
ENST00000675622.1:n.4319G>C
ENST00000679609.1:c.*862G>C	ENSP00000506592.1:n.*862G>C
ENST00000679656.1:n.1937G>C
ENST00000679723.1:c.1207G>C	ENSP00000505155.1:p.Gly403Arg
ENST00000679845.1:n.1560G>C
ENST00000679904.1:n.1648G>C
ENST00000680378.1:c.1339G>C	ENSP00000505556.1:p.Gly447Arg
ENST00000680444.1:c.*615G>C	ENSP00000505298.1:n.*615G>C
ENST00000680978.1:c.1252G>C	ENSP00000505244.1:p.Gly418Arg
ENST00000681003.1:n.715G>C
ENST00000681159.1:n.2656G>C
ENST00000216194.11:c.1294G>C	ENSP00000216194.8:p.Gly432Arg
ENST00000342312.9:c.1191+575G>C	ENSP00000341429.6:n.1191+575G>C
ENST00000623063.3:c.1252G>C MANE Select	ENSP00000485525.1:p.Gly418Arg
ENST00000623387.1:n.383G>C
ENST00000625194.3:c.881G>C
NM_000026.2:c.1252G>C	NP_000017.1:p.Gly418Arg
NM_001123378.1:c.1191+575G>C	NP_001116850.1:n.1191+575G>C
XM_011529976.1:c.1252G>C	XP_011528278.1:p.Gly418Arg
XM_011529977.1:c.1252G>C	XP_011528279.1:p.Gly418Arg
XM_011529978.1:c.1191+575G>C	XP_011528280.1:n.1191+575G>C
XM_011529979.1:c.1252G>C	XP_011528281.1:p.Gly418Arg
XM_011529980.1:c.1191+575G>C	XP_011528282.1:n.1191+575G>C
XM_011529981.1:c.787G>C	XP_011528283.1:p.Gly263Arg
XM_011529982.1:c.421G>C	XP_011528284.1:p.Gly141Arg
XR_937824.1:n.1342G>C
XR_937825.1:n.1281+575G>C
NM_000026.3:c.1252G>C	NP_000017.1:p.Gly418Arg
NM_001123378.2:c.1191+575G>C	NP_001116850.1:n.1191+575G>C
NM_001317923.1:c.1060G>C	NP_001304852.1:p.Gly354Arg
NM_001363840.1:c.1252G>C	NP_001350769.1:p.Gly418Arg
NR_134256.1:n.1342G>C
XM_011529977.3:c.1252G>C	XP_011528279.1:p.Gly418Arg
XM_011529980.3:c.1191+575G>C	XP_011528282.1:n.1191+575G>C
XM_017028636.1:c.1207G>C	XP_016884125.1:p.Gly403Arg
XM_017028637.1:c.1207G>C	XP_016884126.1:p.Gly403Arg
XM_017028638.1:c.787G>C	XP_016884127.1:p.Gly263Arg
XM_017028639.2:c.787G>C	XP_016884128.1:p.Gly263Arg
XM_017028640.1:c.421G>C	XP_016884129.1:p.Gly141Arg
XM_024452166.1:c.1146+575G>C	XP_024307934.1:n.1146+575G>C
XR_001755176.2:n.1494G>C
XR_002958670.1:n.1279G>C
XR_937825.3:n.1279+575G>C
NM_000026.4:c.1252G>C MANE Select	NP_000017.1:p.Gly418Arg
NM_001363840.2:c.1252G>C	NP_001350769.1:p.Gly418Arg
NM_001123378.3:c.1191+575G>C	NP_001116850.1:n.1191+575G>C
NM_001317923.2:c.1060G>C	NP_001304852.1:p.Gly354Arg
NM_001363840.3:c.1252G>C	NP_001350769.1:p.Gly418Arg
NR_134256.2:n.1342G>C