Canonical Allele Identifier: CA1713927536

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092077C= , CM000669.2:g.66092077C=	GRCh38
NC_000007.13:g.65557064C= , CM000669.1:g.65557064C=	GRCh37
NC_000007.12:g.65194499C=	NCBI36
NG_009288.1:g.21289C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1134C= MANE Select	ENSP00000307188.9:p.Val378=
ENST00000362000.10:c.939C=	ENSP00000354710.6:p.Val313=
ENST00000380839.9:c.1056C=	ENSP00000370219.4:p.Val352=
ENST00000395331.4:c.1074C=	ENSP00000378740.3:p.Val358=
ENST00000395332.8:c.1134C=	ENSP00000378741.3:p.Val378=
ENST00000488343.2:c.148-827C=	ENSP00000500864.1:n.148-827C=
ENST00000672498.1:c.*433C=	ENSP00000500227.1:n.*433C=
ENST00000672586.1:n.1893C=
ENST00000672676.1:n.2158C=
ENST00000673149.1:n.946C=
ENST00000673350.1:n.3251C=
ENST00000673518.1:c.1056C=	ENSP00000499889.1:p.Val352=
ENST00000304874.13:c.1134C=	ENSP00000307188.9:p.Val378=
ENST00000380839.8:c.1056C=	ENSP00000370219.4:p.Val352=
ENST00000395331.3:c.1074C=	ENSP00000378740.3:p.Val358=
ENST00000395332.7:c.1134C=	ENSP00000378741.3:p.Val378=
ENST00000450043.2:c.447C=	ENSP00000396527.2:p.Val149=
ENST00000464970.1:n.337C=
ENST00000488343.1:n.148-827C=
ENST00000493708.5:n.615C=
NM_000048.3:c.1134C=	NP_000039.2:p.Val378=
NM_001024943.1:c.1134C=	NP_001020114.1:p.Val378=
NM_001024944.1:c.1074C=	NP_001020115.1:p.Val358=
NM_001024946.1:c.1056C=	NP_001020117.1:p.Val352=
NM_000048.4:c.1134C= MANE Select	NP_000039.2:p.Val378=
NM_001024943.2:c.1134C=	NP_001020114.1:p.Val378=
NM_001024944.2:c.1074C=	NP_001020115.1:p.Val358=
NM_001024946.2:c.1056C=	NP_001020117.1:p.Val352=