Canonical Allele Identifier: CA514615638

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760997C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364993C>A , CM000684.2:g.40364993C>A	GRCh38
NC_000022.10:g.40760997C>A , CM000684.1:g.40760997C>A	GRCh37
NC_000022.9:g.39090943C>A	NCBI36
NG_007993.1:g.23494C>A
NG_007993.2:g.23494C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*699C>A	ENSP00000485462.2:n.*699C>A
ENST00000623287.4:c.*730C>A	ENSP00000485437.1:n.*730C>A
ENST00000623632.4:c.996C>A	ENSP00000485288.2:p.Pro332=
ENST00000625194.4:c.1347C>A	ENSP00000485289.2:p.Pro449=
ENST00000636433.1:n.1327C>A
ENST00000636714.1:c.1305C>A	ENSP00000490946.1:p.Pro435=
ENST00000637666.2:c.1191+628C>A	ENSP00000489696.2:n.1191+628C>A
ENST00000637669.1:c.1305C>A	ENSP00000489728.1:p.Pro435=
ENST00000639722.1:c.*1001C>A	ENSP00000492828.1:n.*1001C>A
ENST00000674592.1:n.2819C>A
ENST00000675622.1:n.4372C>A
ENST00000679609.1:c.*915C>A	ENSP00000506592.1:n.*915C>A
ENST00000679656.1:n.1990C>A
ENST00000679723.1:c.1260C>A	ENSP00000505155.1:p.Pro420=
ENST00000679845.1:n.1613C>A
ENST00000679904.1:n.1701C>A
ENST00000680378.1:c.1392C>A	ENSP00000505556.1:p.Pro464=
ENST00000680444.1:c.*668C>A	ENSP00000505298.1:n.*668C>A
ENST00000680978.1:c.1305C>A	ENSP00000505244.1:p.Pro435=
ENST00000681003.1:n.768C>A
ENST00000681159.1:n.2709C>A
ENST00000216194.11:c.1347C>A	ENSP00000216194.8:p.Pro449=
ENST00000342312.9:c.1191+628C>A	ENSP00000341429.6:n.1191+628C>A
ENST00000423176.6:c.32C>A
ENST00000623063.3:c.1305C>A MANE Select	ENSP00000485525.1:p.Pro435=
ENST00000623387.1:n.436C>A
ENST00000623869.3:c.36C>A	ENSP00000485211.1:p.Pro12=
ENST00000624027.1:c.32C>A
ENST00000625194.3:c.934C>A
NM_000026.2:c.1305C>A	NP_000017.1:p.Pro435=
NM_001123378.1:c.1191+628C>A	NP_001116850.1:n.1191+628C>A
XM_011529976.1:c.1305C>A	XP_011528278.1:p.Pro435=
XM_011529977.1:c.1305C>A	XP_011528279.1:p.Pro435=
XM_011529978.1:c.1191+628C>A	XP_011528280.1:n.1191+628C>A
XM_011529979.1:c.1305C>A	XP_011528281.1:p.Pro435=
XM_011529980.1:c.1191+628C>A	XP_011528282.1:n.1191+628C>A
XM_011529981.1:c.840C>A	XP_011528283.1:p.Pro280=
XM_011529982.1:c.474C>A	XP_011528284.1:p.Pro158=
XR_937824.1:n.1395C>A
XR_937825.1:n.1281+628C>A
NM_000026.3:c.1305C>A	NP_000017.1:p.Pro435=
NM_001123378.2:c.1191+628C>A	NP_001116850.1:n.1191+628C>A
NM_001317923.1:c.1113C>A	NP_001304852.1:p.Pro371=
NM_001363840.1:c.1305C>A	NP_001350769.1:p.Pro435=
NR_134256.1:n.1395C>A
XM_011529977.3:c.1305C>A	XP_011528279.1:p.Pro435=
XM_011529980.3:c.1191+628C>A	XP_011528282.1:n.1191+628C>A
XM_017028636.1:c.1260C>A	XP_016884125.1:p.Pro420=
XM_017028637.1:c.1260C>A	XP_016884126.1:p.Pro420=
XM_017028638.1:c.840C>A	XP_016884127.1:p.Pro280=
XM_017028639.2:c.840C>A	XP_016884128.1:p.Pro280=
XM_017028640.1:c.474C>A	XP_016884129.1:p.Pro158=
XM_024452166.1:c.1146+628C>A	XP_024307934.1:n.1146+628C>A
XR_001755176.2:n.1547C>A
XR_002958670.1:n.1332C>A
XR_937825.3:n.1279+628C>A
NM_000026.4:c.1305C>A MANE Select	NP_000017.1:p.Pro435=
NM_001363840.2:c.1305C>A	NP_001350769.1:p.Pro435=
NM_001123378.3:c.1191+628C>A	NP_001116850.1:n.1191+628C>A
NM_001317923.2:c.1113C>A	NP_001304852.1:p.Pro371=
NM_001363840.3:c.1305C>A	NP_001350769.1:p.Pro435=
NR_134256.2:n.1395C>A