Canonical Allele Identifier: CA411648290

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760990T>A (hg19) ; chr22:g.40364986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364986T>A , CM000684.2:g.40364986T>A	GRCh38
NC_000022.10:g.40760990T>A , CM000684.1:g.40760990T>A	GRCh37
NC_000022.9:g.39090936T>A	NCBI36
NG_007993.1:g.23487T>A
NG_007993.2:g.23487T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*692T>A	ENSP00000485462.2:n.*692T>A
ENST00000623287.4:c.*723T>A	ENSP00000485437.1:n.*723T>A
ENST00000623632.4:c.989T>A	ENSP00000485288.2:p.Phe330Tyr
ENST00000625194.4:c.1340T>A	ENSP00000485289.2:p.Phe447Tyr
ENST00000636433.1:n.1320T>A
ENST00000636714.1:c.1298T>A	ENSP00000490946.1:p.Phe433Tyr
ENST00000637666.2:c.1191+621T>A	ENSP00000489696.2:n.1191+621T>A
ENST00000637669.1:c.1298T>A	ENSP00000489728.1:p.Phe433Tyr
ENST00000639722.1:c.*994T>A	ENSP00000492828.1:n.*994T>A
ENST00000674592.1:n.2812T>A
ENST00000675622.1:n.4365T>A
ENST00000679609.1:c.*908T>A	ENSP00000506592.1:n.*908T>A
ENST00000679656.1:n.1983T>A
ENST00000679723.1:c.1253T>A	ENSP00000505155.1:p.Phe418Tyr
ENST00000679845.1:n.1606T>A
ENST00000679904.1:n.1694T>A
ENST00000680378.1:c.1385T>A	ENSP00000505556.1:p.Phe462Tyr
ENST00000680444.1:c.*661T>A	ENSP00000505298.1:n.*661T>A
ENST00000680978.1:c.1298T>A	ENSP00000505244.1:p.Phe433Tyr
ENST00000681003.1:n.761T>A
ENST00000681159.1:n.2702T>A
ENST00000216194.11:c.1340T>A	ENSP00000216194.8:p.Phe447Tyr
ENST00000342312.9:c.1191+621T>A	ENSP00000341429.6:n.1191+621T>A
ENST00000423176.6:c.25T>A
ENST00000623063.3:c.1298T>A MANE Select	ENSP00000485525.1:p.Phe433Tyr
ENST00000623387.1:n.429T>A
ENST00000623869.3:c.29T>A	ENSP00000485211.1:p.Phe10Tyr
ENST00000624027.1:c.25T>A
ENST00000625194.3:c.927T>A
NM_000026.2:c.1298T>A	NP_000017.1:p.Phe433Tyr
NM_001123378.1:c.1191+621T>A	NP_001116850.1:n.1191+621T>A
XM_011529976.1:c.1298T>A	XP_011528278.1:p.Phe433Tyr
XM_011529977.1:c.1298T>A	XP_011528279.1:p.Phe433Tyr
XM_011529978.1:c.1191+621T>A	XP_011528280.1:n.1191+621T>A
XM_011529979.1:c.1298T>A	XP_011528281.1:p.Phe433Tyr
XM_011529980.1:c.1191+621T>A	XP_011528282.1:n.1191+621T>A
XM_011529981.1:c.833T>A	XP_011528283.1:p.Phe278Tyr
XM_011529982.1:c.467T>A	XP_011528284.1:p.Phe156Tyr
XR_937824.1:n.1388T>A
XR_937825.1:n.1281+621T>A
NM_000026.3:c.1298T>A	NP_000017.1:p.Phe433Tyr
NM_001123378.2:c.1191+621T>A	NP_001116850.1:n.1191+621T>A
NM_001317923.1:c.1106T>A	NP_001304852.1:p.Phe369Tyr
NM_001363840.1:c.1298T>A	NP_001350769.1:p.Phe433Tyr
NR_134256.1:n.1388T>A
XM_011529977.3:c.1298T>A	XP_011528279.1:p.Phe433Tyr
XM_011529980.3:c.1191+621T>A	XP_011528282.1:n.1191+621T>A
XM_017028636.1:c.1253T>A	XP_016884125.1:p.Phe418Tyr
XM_017028637.1:c.1253T>A	XP_016884126.1:p.Phe418Tyr
XM_017028638.1:c.833T>A	XP_016884127.1:p.Phe278Tyr
XM_017028639.2:c.833T>A	XP_016884128.1:p.Phe278Tyr
XM_017028640.1:c.467T>A	XP_016884129.1:p.Phe156Tyr
XM_024452166.1:c.1146+621T>A	XP_024307934.1:n.1146+621T>A
XR_001755176.2:n.1540T>A
XR_002958670.1:n.1325T>A
XR_937825.3:n.1279+621T>A
NM_000026.4:c.1298T>A MANE Select	NP_000017.1:p.Phe433Tyr
NM_001363840.2:c.1298T>A	NP_001350769.1:p.Phe433Tyr
NM_001123378.3:c.1191+621T>A	NP_001116850.1:n.1191+621T>A
NM_001317923.2:c.1106T>A	NP_001304852.1:p.Phe369Tyr
NM_001363840.3:c.1298T>A	NP_001350769.1:p.Phe433Tyr
NR_134256.2:n.1388T>A