Canonical Allele Identifier: CA2683086778

Gene: ASL

Linked Data

• gnomAD v4: 7-66092219-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092219A>G , CM000669.2:g.66092219A>G	GRCh38
NC_000007.13:g.65557206A>G , CM000669.1:g.65557206A>G	GRCh37
NC_000007.12:g.65194641A>G	NCBI36
NG_009288.1:g.21431A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+133A>G MANE Select	ENSP00000307188.9:n.1143+133A>G
ENST00000362000.10:c.948+133A>G	ENSP00000354710.6:n.948+133A>G
ENST00000380839.9:c.1065+133A>G	ENSP00000370219.4:n.1065+133A>G
ENST00000395331.4:c.1083+133A>G	ENSP00000378740.3:n.1083+133A>G
ENST00000395332.8:c.1143+133A>G	ENSP00000378741.3:n.1143+133A>G
ENST00000488343.2:c.148-685A>G	ENSP00000500864.1:n.148-685A>G
ENST00000672498.1:c.*442+133A>G	ENSP00000500227.1:n.*442+133A>G
ENST00000672586.1:n.1902+133A>G
ENST00000672676.1:n.2167+133A>G
ENST00000673149.1:n.955+133A>G
ENST00000673350.1:n.3260+133A>G
ENST00000673518.1:c.1065+133A>G	ENSP00000499889.1:n.1065+133A>G
ENST00000304874.13:c.1143+133A>G	ENSP00000307188.9:n.1143+133A>G
ENST00000380839.8:c.1065+133A>G	ENSP00000370219.4:n.1065+133A>G
ENST00000395331.3:c.1083+133A>G	ENSP00000378740.3:n.1083+133A>G
ENST00000395332.7:c.1143+133A>G	ENSP00000378741.3:n.1143+133A>G
ENST00000450043.2:c.456+133A>G	ENSP00000396527.2:n.456+133A>G
ENST00000464970.1:n.346+133A>G
ENST00000488343.1:n.148-685A>G
ENST00000493708.5:n.624+133A>G
NM_000048.3:c.1143+133A>G	NP_000039.2:n.1143+133A>G
NM_001024943.1:c.1143+133A>G	NP_001020114.1:n.1143+133A>G
NM_001024944.1:c.1083+133A>G	NP_001020115.1:n.1083+133A>G
NM_001024946.1:c.1065+133A>G	NP_001020117.1:n.1065+133A>G
NM_000048.4:c.1143+133A>G MANE Select	NP_000039.2:n.1143+133A>G
NM_001024943.2:c.1143+133A>G	NP_001020114.1:n.1143+133A>G
NM_001024944.2:c.1083+133A>G	NP_001020115.1:n.1083+133A>G
NM_001024946.2:c.1065+133A>G	NP_001020117.1:n.1065+133A>G