Canonical Allele Identifier: CA252265

Gene: ASL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092078C>T , CM000669.2:g.66092078C>T	GRCh38
NC_000007.13:g.65557065C>T , CM000669.1:g.65557065C>T	GRCh37
NC_000007.12:g.65194500C>T	NCBI36
NG_009288.1:g.21290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1135C>T MANE Select	ENSP00000307188.9:p.Arg379Cys
ENST00000362000.10:c.940C>T	ENSP00000354710.6:p.Arg314Cys
ENST00000380839.9:c.1057C>T	ENSP00000370219.4:p.Arg353Cys
ENST00000395331.4:c.1075C>T	ENSP00000378740.3:p.Arg359Cys
ENST00000395332.8:c.1135C>T	ENSP00000378741.3:p.Arg379Cys
ENST00000488343.2:c.148-826C>T	ENSP00000500864.1:n.148-826C>T
ENST00000672498.1:c.*434C>T	ENSP00000500227.1:n.*434C>T
ENST00000672586.1:n.1894C>T
ENST00000672676.1:n.2159C>T
ENST00000673149.1:n.947C>T
ENST00000673350.1:n.3252C>T
ENST00000673518.1:c.1057C>T	ENSP00000499889.1:p.Arg353Cys
ENST00000304874.13:c.1135C>T	ENSP00000307188.9:p.Arg379Cys
ENST00000380839.8:c.1057C>T	ENSP00000370219.4:p.Arg353Cys
ENST00000395331.3:c.1075C>T	ENSP00000378740.3:p.Arg359Cys
ENST00000395332.7:c.1135C>T	ENSP00000378741.3:p.Arg379Cys
ENST00000450043.2:c.448C>T	ENSP00000396527.2:p.Arg150Cys
ENST00000464970.1:n.338C>T
ENST00000488343.1:n.148-826C>T
ENST00000493708.5:n.616C>T
NM_000048.3:c.1135C>T	NP_000039.2:p.Arg379Cys
NM_001024943.1:c.1135C>T	NP_001020114.1:p.Arg379Cys
NM_001024944.1:c.1075C>T	NP_001020115.1:p.Arg359Cys
NM_001024946.1:c.1057C>T	NP_001020117.1:p.Arg353Cys
NM_000048.4:c.1135C>T MANE Select	NP_000039.2:p.Arg379Cys
NM_001024943.2:c.1135C>T	NP_001020114.1:p.Arg379Cys
NM_001024944.2:c.1075C>T	NP_001020115.1:p.Arg359Cys
NM_001024946.2:c.1057C>T	NP_001020117.1:p.Arg353Cys