Canonical Allele Identifier: CA411635172

Gene: ADSL

Linked Data

• ClinVar Variation Id: 1999344
• ClinVar RCV Id: RCV002819527
• MyVariant Identifiers: chr22:g.40745986G>T (hg19) ; chr22:g.40349982G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40349982G>T , CM000684.2:g.40349982G>T	GRCh38
NC_000022.10:g.40745986G>T , CM000684.1:g.40745986G>T	GRCh37
NC_000022.9:g.39075932G>T	NCBI36
NG_007993.1:g.8483G>T
NG_007993.2:g.8483G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.304G>T	ENSP00000485462.2:p.Ala102Ser
ENST00000623287.4:c.304G>T	ENSP00000485437.1:p.Ala102Ser
ENST00000623632.4:c.304G>T	ENSP00000485288.2:p.Ala102Ser
ENST00000625194.4:c.304G>T	ENSP00000485289.2:p.Ala102Ser
ENST00000636124.1:n.49+2630G>T
ENST00000636265.1:c.304G>T	ENSP00000490909.1:p.Ala102Ser
ENST00000636714.1:c.304G>T	ENSP00000490946.1:p.Ala102Ser
ENST00000637666.2:c.304G>T	ENSP00000489696.2:p.Ala102Ser
ENST00000637669.1:c.304G>T	ENSP00000489728.1:p.Ala102Ser
ENST00000638161.1:n.441G>T
ENST00000639722.1:c.*125G>T	ENSP00000492828.1:n.*125G>T
ENST00000675622.1:n.334G>T
ENST00000679609.1:c.304G>T	ENSP00000506592.1:p.Ala102Ser
ENST00000679656.1:n.334G>T
ENST00000679723.1:c.304G>T	ENSP00000505155.1:p.Ala102Ser
ENST00000680378.1:c.304G>T	ENSP00000505556.1:p.Ala102Ser
ENST00000680444.1:c.304G>T	ENSP00000505298.1:p.Ala102Ser
ENST00000680978.1:c.304G>T	ENSP00000505244.1:p.Ala102Ser
ENST00000681159.1:n.363G>T
ENST00000216194.11:c.304G>T	ENSP00000216194.8:p.Ala102Ser
ENST00000342312.9:c.304G>T	ENSP00000341429.6:p.Ala102Ser
ENST00000466863.1:n.345G>T
ENST00000477111.2:n.334G>T
ENST00000623063.3:c.304G>T MANE Select	ENSP00000485525.1:p.Ala102Ser
ENST00000623287.3:c.304G>T	ENSP00000485437.1:p.Ala102Ser
ENST00000623632.3:c.304G>T	ENSP00000485288.1:p.Ala102Ser
ENST00000623978.3:c.-183-3091G>T	ENSP00000485477.1:n.-183-3091G>T
ENST00000624474.1:c.304G>T	ENSP00000485286.1:p.Ala102Ser
ENST00000624503.1:c.304G>T	ENSP00000485073.1:p.Ala102Ser
NM_000026.2:c.304G>T	NP_000017.1:p.Ala102Ser
NM_001123378.1:c.304G>T	NP_001116850.1:p.Ala102Ser
XM_011529976.1:c.304G>T	XP_011528278.1:p.Ala102Ser
XM_011529977.1:c.304G>T	XP_011528279.1:p.Ala102Ser
XM_011529978.1:c.304G>T	XP_011528280.1:p.Ala102Ser
XM_011529979.1:c.304G>T	XP_011528281.1:p.Ala102Ser
XM_011529980.1:c.304G>T	XP_011528282.1:p.Ala102Ser
XM_011529981.1:c.-37G>T	XP_011528283.1:n.-37G>T
XR_937824.1:n.363G>T
XR_937825.1:n.363G>T
XR_937826.1:n.363G>T
NM_000026.3:c.304G>T	NP_000017.1:p.Ala102Ser
NM_001123378.2:c.304G>T	NP_001116850.1:p.Ala102Ser
NM_001317923.1:c.112G>T	NP_001304852.1:p.Ala38Ser
NM_001363840.1:c.304G>T	NP_001350769.1:p.Ala102Ser
NR_134256.1:n.363G>T
XM_011529977.3:c.304G>T	XP_011528279.1:p.Ala102Ser
XM_011529980.3:c.304G>T	XP_011528282.1:p.Ala102Ser
XM_017028636.1:c.304G>T	XP_016884125.1:p.Ala102Ser
XM_017028637.1:c.304G>T	XP_016884126.1:p.Ala102Ser
XM_017028638.1:c.-37G>T	XP_016884127.1:n.-37G>T
XM_017028639.2:c.-37G>T	XP_016884128.1:n.-37G>T
XM_024452166.1:c.304G>T	XP_024307934.1:p.Ala102Ser
XR_001755176.2:n.361G>T
XR_002958670.1:n.345G>T
XR_002958671.1:n.361G>T
XR_937825.3:n.361G>T
NM_000026.4:c.304G>T MANE Select	NP_000017.1:p.Ala102Ser
NM_001363840.2:c.304G>T	NP_001350769.1:p.Ala102Ser
NM_001123378.3:c.304G>T	NP_001116850.1:p.Ala102Ser
NM_001317923.2:c.112G>T	NP_001304852.1:p.Ala38Ser
NM_001363840.3:c.304G>T	NP_001350769.1:p.Ala102Ser
NR_134256.2:n.363G>T