Canonical Allele Identifier: CA1713929159
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092851G= , CM000669.2:g.66092851G= GRCh38
NC_000007.13:g.65557838G= , CM000669.1:g.65557838G= GRCh37
NC_000007.12:g.65195273G= NCBI36
NG_009288.1:g.22063G=

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.1334G= MANE Select ENSP00000307188.9:p.Arg445=
ENST00000362000.10:c.1139G= ENSP00000354710.6:p.Arg380=
ENST00000380839.9:c.1256G= ENSP00000370219.4:p.Arg419=
ENST00000395331.4:c.1274G= ENSP00000378740.3:p.Arg425=
ENST00000395332.8:c.1334G= ENSP00000378741.3:p.Arg445=
ENST00000488343.2:c.148-53G= ENSP00000500864.1:n.148-53G=
ENST00000672498.1:c.*737G= ENSP00000500227.1:n.*737G=
ENST00000672586.1:n.2093G=
ENST00000672676.1:n.2358G=
ENST00000673149.1:n.1146G=
ENST00000673350.1:n.3451G=
ENST00000673518.1:c.1256G= ENSP00000499889.1:p.Arg419=
ENST00000304874.13:c.1334G= ENSP00000307188.9:p.Arg445=
ENST00000380839.8:c.1256G= ENSP00000370219.4:p.Arg419=
ENST00000395331.3:c.1274G= ENSP00000378740.3:p.Arg425=
ENST00000395332.7:c.1334G= ENSP00000378741.3:p.Arg445=
ENST00000450043.2:c.563+188G= ENSP00000396527.2:n.563+188G=
ENST00000464970.1:n.537G=
ENST00000488343.1:n.148-53G=
ENST00000493708.5:n.815G=
NM_000048.3:c.1334G= NP_000039.2:p.Arg445=
NM_001024943.1:c.1334G= NP_001020114.1:p.Arg445=
NM_001024944.1:c.1274G= NP_001020115.1:p.Arg425=
NM_001024946.1:c.1256G= NP_001020117.1:p.Arg419=
NM_000048.4:c.1334G= MANE Select NP_000039.2:p.Arg445=
NM_001024943.2:c.1334G= NP_001020114.1:p.Arg445=
NM_001024944.2:c.1274G= NP_001020115.1:p.Arg425=
NM_001024946.2:c.1256G= NP_001020117.1:p.Arg419=