Canonical Allele Identifier: CA367645440

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089101A>C , CM000669.2:g.66089101A>C	GRCh38
NC_000007.13:g.65554088A>C , CM000669.1:g.65554088A>C	GRCh37
NC_000007.12:g.65191523A>C	NCBI36
NG_009288.1:g.18313A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.844A>C MANE Select	NP_000039.2:p.Ser282Arg
ENST00000304874.14:c.844A>C MANE Select	ENSP00000307188.9:p.Ser282Arg
NM_000048.3:c.844A>C	NP_000039.2:p.Ser282Arg
NM_001024943.1:c.844A>C	NP_001020114.1:p.Ser282Arg
NM_001024943.2:c.844A>C	NP_001020114.1:p.Ser282Arg
NM_001024944.1:c.844A>C	NP_001020115.1:p.Ser282Arg
NM_001024944.2:c.844A>C	NP_001020115.1:p.Ser282Arg
NM_001024946.1:c.766A>C	NP_001020117.1:p.Ser256Arg
NM_001024946.2:c.766A>C	NP_001020117.1:p.Ser256Arg
ENST00000304874.13:c.844A>C	ENSP00000307188.9:p.Ser282Arg
ENST00000362000.10:c.649A>C	ENSP00000354710.6:p.Ser217Arg
ENST00000362000.9:c.649A>C	ENSP00000354710.5:p.Ser217Arg
ENST00000380839.8:c.766A>C	ENSP00000370219.4:p.Ser256Arg
ENST00000380839.9:c.766A>C	ENSP00000370219.4:p.Ser256Arg
ENST00000395331.3:c.844A>C	ENSP00000378740.3:p.Ser282Arg
ENST00000395331.4:c.844A>C	ENSP00000378740.3:p.Ser282Arg
ENST00000395332.7:c.844A>C	ENSP00000378741.3:p.Ser282Arg
ENST00000395332.8:c.844A>C	ENSP00000378741.3:p.Ser282Arg
ENST00000450043.2:c.157A>C	ENSP00000396527.2:p.Ser53Arg
ENST00000488343.1:n.13A>C
ENST00000488343.2:c.13A>C	ENSP00000500864.1:p.Ser5Arg
ENST00000493708.5:n.225A>C
ENST00000671817.1:c.766A>C	ENSP00000500462.1:p.Ser256Arg
ENST00000672498.1:c.*143A>C	ENSP00000500227.1:n.*143A>C
ENST00000672586.1:n.1603A>C
ENST00000672676.1:n.1868A>C
ENST00000673149.1:n.656A>C
ENST00000673350.1:n.2961A>C
ENST00000673518.1:c.766A>C	ENSP00000499889.1:p.Ser256Arg