Canonical Allele Identifier: CA312337

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092814A>C , CM000669.2:g.66092814A>C	GRCh38
NC_000007.13:g.65557801A>C , CM000669.1:g.65557801A>C	GRCh37
NC_000007.12:g.65195236A>C	NCBI36
NG_009288.1:g.22026A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1297A>C MANE Select	NP_000039.2:p.Ser433Arg
ENST00000304874.14:c.1297A>C MANE Select	ENSP00000307188.9:p.Ser433Arg
NM_000048.3:c.1297A>C	NP_000039.2:p.Ser433Arg
NM_001024943.1:c.1297A>C	NP_001020114.1:p.Ser433Arg
NM_001024943.2:c.1297A>C	NP_001020114.1:p.Ser433Arg
NM_001024944.1:c.1237A>C	NP_001020115.1:p.Ser413Arg
NM_001024944.2:c.1237A>C	NP_001020115.1:p.Ser413Arg
NM_001024946.1:c.1219A>C	NP_001020117.1:p.Ser407Arg
NM_001024946.2:c.1219A>C	NP_001020117.1:p.Ser407Arg
ENST00000304874.13:c.1297A>C	ENSP00000307188.9:p.Ser433Arg
ENST00000362000.10:c.1102A>C	ENSP00000354710.6:p.Ser368Arg
ENST00000380839.8:c.1219A>C	ENSP00000370219.4:p.Ser407Arg
ENST00000380839.9:c.1219A>C	ENSP00000370219.4:p.Ser407Arg
ENST00000395331.3:c.1237A>C	ENSP00000378740.3:p.Ser413Arg
ENST00000395331.4:c.1237A>C	ENSP00000378740.3:p.Ser413Arg
ENST00000395332.7:c.1297A>C	ENSP00000378741.3:p.Ser433Arg
ENST00000395332.8:c.1297A>C	ENSP00000378741.3:p.Ser433Arg
ENST00000450043.2:c.563+151A>C	ENSP00000396527.2:n.563+151A>C
ENST00000464970.1:n.500A>C
ENST00000488343.1:n.148-90A>C
ENST00000488343.2:c.148-90A>C	ENSP00000500864.1:n.148-90A>C
ENST00000493708.5:n.778A>C
ENST00000672498.1:c.*700A>C	ENSP00000500227.1:n.*700A>C
ENST00000672586.1:n.2056A>C
ENST00000672676.1:n.2321A>C
ENST00000673149.1:n.1109A>C
ENST00000673350.1:n.3414A>C
ENST00000673518.1:c.1219A>C	ENSP00000499889.1:p.Ser407Arg