Canonical Allele Identifier: CA411648308

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760991C>G (hg19) ; chr22:g.40364987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364987C>G , CM000684.2:g.40364987C>G	GRCh38
NC_000022.10:g.40760991C>G , CM000684.1:g.40760991C>G	GRCh37
NC_000022.9:g.39090937C>G	NCBI36
NG_007993.1:g.23488C>G
NG_007993.2:g.23488C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*693C>G	ENSP00000485462.2:n.*693C>G
ENST00000623287.4:c.*724C>G	ENSP00000485437.1:n.*724C>G
ENST00000623632.4:c.990C>G	ENSP00000485288.2:p.Phe330Leu
ENST00000625194.4:c.1341C>G	ENSP00000485289.2:p.Phe447Leu
ENST00000636433.1:n.1321C>G
ENST00000636714.1:c.1299C>G	ENSP00000490946.1:p.Phe433Leu
ENST00000637666.2:c.1191+622C>G	ENSP00000489696.2:n.1191+622C>G
ENST00000637669.1:c.1299C>G	ENSP00000489728.1:p.Phe433Leu
ENST00000639722.1:c.*995C>G	ENSP00000492828.1:n.*995C>G
ENST00000674592.1:n.2813C>G
ENST00000675622.1:n.4366C>G
ENST00000679609.1:c.*909C>G	ENSP00000506592.1:n.*909C>G
ENST00000679656.1:n.1984C>G
ENST00000679723.1:c.1254C>G	ENSP00000505155.1:p.Phe418Leu
ENST00000679845.1:n.1607C>G
ENST00000679904.1:n.1695C>G
ENST00000680378.1:c.1386C>G	ENSP00000505556.1:p.Phe462Leu
ENST00000680444.1:c.*662C>G	ENSP00000505298.1:n.*662C>G
ENST00000680978.1:c.1299C>G	ENSP00000505244.1:p.Phe433Leu
ENST00000681003.1:n.762C>G
ENST00000681159.1:n.2703C>G
ENST00000216194.11:c.1341C>G	ENSP00000216194.8:p.Phe447Leu
ENST00000342312.9:c.1191+622C>G	ENSP00000341429.6:n.1191+622C>G
ENST00000423176.6:c.26C>G
ENST00000623063.3:c.1299C>G MANE Select	ENSP00000485525.1:p.Phe433Leu
ENST00000623387.1:n.430C>G
ENST00000623869.3:c.30C>G	ENSP00000485211.1:p.Phe10Leu
ENST00000624027.1:c.26C>G
ENST00000625194.3:c.928C>G
NM_000026.2:c.1299C>G	NP_000017.1:p.Phe433Leu
NM_001123378.1:c.1191+622C>G	NP_001116850.1:n.1191+622C>G
XM_011529976.1:c.1299C>G	XP_011528278.1:p.Phe433Leu
XM_011529977.1:c.1299C>G	XP_011528279.1:p.Phe433Leu
XM_011529978.1:c.1191+622C>G	XP_011528280.1:n.1191+622C>G
XM_011529979.1:c.1299C>G	XP_011528281.1:p.Phe433Leu
XM_011529980.1:c.1191+622C>G	XP_011528282.1:n.1191+622C>G
XM_011529981.1:c.834C>G	XP_011528283.1:p.Phe278Leu
XM_011529982.1:c.468C>G	XP_011528284.1:p.Phe156Leu
XR_937824.1:n.1389C>G
XR_937825.1:n.1281+622C>G
NM_000026.3:c.1299C>G	NP_000017.1:p.Phe433Leu
NM_001123378.2:c.1191+622C>G	NP_001116850.1:n.1191+622C>G
NM_001317923.1:c.1107C>G	NP_001304852.1:p.Phe369Leu
NM_001363840.1:c.1299C>G	NP_001350769.1:p.Phe433Leu
NR_134256.1:n.1389C>G
XM_011529977.3:c.1299C>G	XP_011528279.1:p.Phe433Leu
XM_011529980.3:c.1191+622C>G	XP_011528282.1:n.1191+622C>G
XM_017028636.1:c.1254C>G	XP_016884125.1:p.Phe418Leu
XM_017028637.1:c.1254C>G	XP_016884126.1:p.Phe418Leu
XM_017028638.1:c.834C>G	XP_016884127.1:p.Phe278Leu
XM_017028639.2:c.834C>G	XP_016884128.1:p.Phe278Leu
XM_017028640.1:c.468C>G	XP_016884129.1:p.Phe156Leu
XM_024452166.1:c.1146+622C>G	XP_024307934.1:n.1146+622C>G
XR_001755176.2:n.1541C>G
XR_002958670.1:n.1326C>G
XR_937825.3:n.1279+622C>G
NM_000026.4:c.1299C>G MANE Select	NP_000017.1:p.Phe433Leu
NM_001363840.2:c.1299C>G	NP_001350769.1:p.Phe433Leu
NM_001123378.3:c.1191+622C>G	NP_001116850.1:n.1191+622C>G
NM_001317923.2:c.1107C>G	NP_001304852.1:p.Phe369Leu
NM_001363840.3:c.1299C>G	NP_001350769.1:p.Phe433Leu
NR_134256.2:n.1389C>G