Canonical Allele Identifier: CA2683086728

Gene: ASL

Linked Data

• gnomAD v4: 7-66092187-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092187C>A , CM000669.2:g.66092187C>A	GRCh38
NC_000007.13:g.65557174C>A , CM000669.1:g.65557174C>A	GRCh37
NC_000007.12:g.65194609C>A	NCBI36
NG_009288.1:g.21399C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+101C>A MANE Select	ENSP00000307188.9:n.1143+101C>A
ENST00000362000.10:c.948+101C>A	ENSP00000354710.6:n.948+101C>A
ENST00000380839.9:c.1065+101C>A	ENSP00000370219.4:n.1065+101C>A
ENST00000395331.4:c.1083+101C>A	ENSP00000378740.3:n.1083+101C>A
ENST00000395332.8:c.1143+101C>A	ENSP00000378741.3:n.1143+101C>A
ENST00000488343.2:c.148-717C>A	ENSP00000500864.1:n.148-717C>A
ENST00000672498.1:c.*442+101C>A	ENSP00000500227.1:n.*442+101C>A
ENST00000672586.1:n.1902+101C>A
ENST00000672676.1:n.2167+101C>A
ENST00000673149.1:n.955+101C>A
ENST00000673350.1:n.3260+101C>A
ENST00000673518.1:c.1065+101C>A	ENSP00000499889.1:n.1065+101C>A
ENST00000304874.13:c.1143+101C>A	ENSP00000307188.9:n.1143+101C>A
ENST00000380839.8:c.1065+101C>A	ENSP00000370219.4:n.1065+101C>A
ENST00000395331.3:c.1083+101C>A	ENSP00000378740.3:n.1083+101C>A
ENST00000395332.7:c.1143+101C>A	ENSP00000378741.3:n.1143+101C>A
ENST00000450043.2:c.456+101C>A	ENSP00000396527.2:n.456+101C>A
ENST00000464970.1:n.346+101C>A
ENST00000488343.1:n.148-717C>A
ENST00000493708.5:n.624+101C>A
NM_000048.3:c.1143+101C>A	NP_000039.2:n.1143+101C>A
NM_001024943.1:c.1143+101C>A	NP_001020114.1:n.1143+101C>A
NM_001024944.1:c.1083+101C>A	NP_001020115.1:n.1083+101C>A
NM_001024946.1:c.1065+101C>A	NP_001020117.1:n.1065+101C>A
NM_000048.4:c.1143+101C>A MANE Select	NP_000039.2:n.1143+101C>A
NM_001024943.2:c.1143+101C>A	NP_001020114.1:n.1143+101C>A
NM_001024944.2:c.1083+101C>A	NP_001020115.1:n.1083+101C>A
NM_001024946.2:c.1065+101C>A	NP_001020117.1:n.1065+101C>A