Canonical Allele Identifier: CA1713928740
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092706G= , CM000669.2:g.66092706G= GRCh38
NC_000007.13:g.65557693G= , CM000669.1:g.65557693G= GRCh37
NC_000007.12:g.65195128G= NCBI36
NG_009288.1:g.21918G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.1250+43G= MANE Select ENSP00000307188.9:n.1250+43G=
ENST00000362000.10:c.1055+43G= ENSP00000354710.6:n.1055+43G=
ENST00000380839.9:c.1172+43G= ENSP00000370219.4:n.1172+43G=
ENST00000395331.4:c.1190+43G= ENSP00000378740.3:n.1190+43G=
ENST00000395332.8:c.1250+43G= ENSP00000378741.3:n.1250+43G=
ENST00000488343.2:c.148-198G= ENSP00000500864.1:n.148-198G=
ENST00000672498.1:c.*592G= ENSP00000500227.1:n.*592G=
ENST00000672586.1:n.2009+43G=
ENST00000672676.1:n.2274+43G=
ENST00000673149.1:n.1062+43G=
ENST00000673350.1:n.3367+43G=
ENST00000673518.1:c.1172+43G= ENSP00000499889.1:n.1172+43G=
ENST00000304874.13:c.1250+43G= ENSP00000307188.9:n.1250+43G=
ENST00000380839.8:c.1172+43G= ENSP00000370219.4:n.1172+43G=
ENST00000395331.3:c.1190+43G= ENSP00000378740.3:n.1190+43G=
ENST00000395332.7:c.1250+43G= ENSP00000378741.3:n.1250+43G=
ENST00000450043.2:c.563+43G= ENSP00000396527.2:n.563+43G=
ENST00000464970.1:n.453+43G=
ENST00000488343.1:n.148-198G=
ENST00000493708.5:n.731+43G=
NM_000048.3:c.1250+43G= NP_000039.2:n.1250+43G=
NM_001024943.1:c.1250+43G= NP_001020114.1:n.1250+43G=
NM_001024944.1:c.1190+43G= NP_001020115.1:n.1190+43G=
NM_001024946.1:c.1172+43G= NP_001020117.1:n.1172+43G=
NM_000048.4:c.1250+43G= MANE Select NP_000039.2:n.1250+43G=
NM_001024943.2:c.1250+43G= NP_001020114.1:n.1250+43G=
NM_001024944.2:c.1190+43G= NP_001020115.1:n.1190+43G=
NM_001024946.2:c.1172+43G= NP_001020117.1:n.1172+43G=