Canonical Allele Identifier: CA411648743

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40761052T>C (hg19) ; chr22:g.40365048T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365048T>C , CM000684.2:g.40365048T>C	GRCh38
NC_000022.10:g.40761052T>C , CM000684.1:g.40761052T>C	GRCh37
NC_000022.9:g.39090998T>C	NCBI36
NG_007993.1:g.23549T>C
NG_007993.2:g.23549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*754T>C	ENSP00000485462.2:n.*754T>C
ENST00000623287.4:c.*785T>C	ENSP00000485437.1:n.*785T>C
ENST00000623632.4:c.1051T>C	ENSP00000485288.2:p.Ser351Pro
ENST00000625194.4:c.1402T>C	ENSP00000485289.2:p.Ser468Pro
ENST00000636433.1:n.1382T>C
ENST00000636714.1:c.1360T>C	ENSP00000490946.1:p.Ser454Pro
ENST00000637666.2:c.1191+683T>C	ENSP00000489696.2:n.1191+683T>C
ENST00000637669.1:c.1360T>C	ENSP00000489728.1:p.Ser454Pro
ENST00000639722.1:c.*1056T>C	ENSP00000492828.1:n.*1056T>C
ENST00000674592.1:n.2874T>C
ENST00000675622.1:n.4427T>C
ENST00000679609.1:c.*970T>C	ENSP00000506592.1:n.*970T>C
ENST00000679656.1:n.2045T>C
ENST00000679723.1:c.1315T>C	ENSP00000505155.1:p.Ser439Pro
ENST00000679845.1:n.1668T>C
ENST00000679904.1:n.1756T>C
ENST00000680378.1:c.1447T>C	ENSP00000505556.1:p.Ser483Pro
ENST00000680444.1:c.*723T>C	ENSP00000505298.1:n.*723T>C
ENST00000680978.1:c.1360T>C	ENSP00000505244.1:p.Ser454Pro
ENST00000681003.1:n.823T>C
ENST00000681159.1:n.2764T>C
ENST00000216194.11:c.1402T>C	ENSP00000216194.8:p.Ser468Pro
ENST00000342312.9:c.1191+683T>C	ENSP00000341429.6:n.1191+683T>C
ENST00000423176.6:c.87T>C
ENST00000498234.2:c.18T>C
ENST00000623063.3:c.1360T>C MANE Select	ENSP00000485525.1:p.Ser454Pro
ENST00000623387.1:n.491T>C
ENST00000623869.3:c.91T>C	ENSP00000485211.1:p.Ser31Pro
ENST00000624027.1:c.87T>C
ENST00000625194.3:c.989T>C
NM_000026.2:c.1360T>C	NP_000017.1:p.Ser454Pro
NM_001123378.1:c.1191+683T>C	NP_001116850.1:n.1191+683T>C
XM_011529976.1:c.1360T>C	XP_011528278.1:p.Ser454Pro
XM_011529977.1:c.1360T>C	XP_011528279.1:p.Ser454Pro
XM_011529978.1:c.1191+683T>C	XP_011528280.1:n.1191+683T>C
XM_011529979.1:c.1360T>C	XP_011528281.1:p.Ser454Pro
XM_011529980.1:c.1191+683T>C	XP_011528282.1:n.1191+683T>C
XM_011529981.1:c.895T>C	XP_011528283.1:p.Ser299Pro
XM_011529982.1:c.529T>C	XP_011528284.1:p.Ser177Pro
XR_937824.1:n.1450T>C
XR_937825.1:n.1281+683T>C
NM_000026.3:c.1360T>C	NP_000017.1:p.Ser454Pro
NM_001123378.2:c.1191+683T>C	NP_001116850.1:n.1191+683T>C
NM_001317923.1:c.1168T>C	NP_001304852.1:p.Ser390Pro
NM_001363840.1:c.1360T>C	NP_001350769.1:p.Ser454Pro
NR_134256.1:n.1450T>C
XM_011529977.3:c.1360T>C	XP_011528279.1:p.Ser454Pro
XM_011529980.3:c.1191+683T>C	XP_011528282.1:n.1191+683T>C
XM_017028636.1:c.1315T>C	XP_016884125.1:p.Ser439Pro
XM_017028637.1:c.1315T>C	XP_016884126.1:p.Ser439Pro
XM_017028638.1:c.895T>C	XP_016884127.1:p.Ser299Pro
XM_017028639.2:c.895T>C	XP_016884128.1:p.Ser299Pro
XM_017028640.1:c.529T>C	XP_016884129.1:p.Ser177Pro
XM_024452166.1:c.1146+683T>C	XP_024307934.1:n.1146+683T>C
XR_001755176.2:n.1602T>C
XR_002958670.1:n.1387T>C
XR_937825.3:n.1279+683T>C
NM_000026.4:c.1360T>C MANE Select	NP_000017.1:p.Ser454Pro
NM_001363840.2:c.1360T>C	NP_001350769.1:p.Ser454Pro
NM_001123378.3:c.1191+683T>C	NP_001116850.1:n.1191+683T>C
NM_001317923.2:c.1168T>C	NP_001304852.1:p.Ser390Pro
NM_001363840.3:c.1360T>C	NP_001350769.1:p.Ser454Pro
NR_134256.2:n.1450T>C