Canonical Allele Identifier: CA2776240971

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092674T>A , CM000669.2:g.66092674T>A	GRCh38
NC_000007.13:g.65557661T>A , CM000669.1:g.65557661T>A	GRCh37
NC_000007.12:g.65195096T>A	NCBI36
NG_009288.1:g.21886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1250+11T>A MANE Select	ENSP00000307188.9:n.1250+11T>A
ENST00000362000.10:c.1055+11T>A	ENSP00000354710.6:n.1055+11T>A
ENST00000380839.9:c.1172+11T>A	ENSP00000370219.4:n.1172+11T>A
ENST00000395331.4:c.1190+11T>A	ENSP00000378740.3:n.1190+11T>A
ENST00000395332.8:c.1250+11T>A	ENSP00000378741.3:n.1250+11T>A
ENST00000488343.2:c.148-230T>A	ENSP00000500864.1:n.148-230T>A
ENST00000672498.1:c.*560T>A	ENSP00000500227.1:n.*560T>A
ENST00000672586.1:n.2009+11T>A
ENST00000672676.1:n.2274+11T>A
ENST00000673149.1:n.1062+11T>A
ENST00000673350.1:n.3367+11T>A
ENST00000673518.1:c.1172+11T>A	ENSP00000499889.1:n.1172+11T>A
ENST00000304874.13:c.1250+11T>A	ENSP00000307188.9:n.1250+11T>A
ENST00000380839.8:c.1172+11T>A	ENSP00000370219.4:n.1172+11T>A
ENST00000395331.3:c.1190+11T>A	ENSP00000378740.3:n.1190+11T>A
ENST00000395332.7:c.1250+11T>A	ENSP00000378741.3:n.1250+11T>A
ENST00000450043.2:c.563+11T>A	ENSP00000396527.2:n.563+11T>A
ENST00000464970.1:n.453+11T>A
ENST00000488343.1:n.148-230T>A
ENST00000493708.5:n.731+11T>A
NM_000048.3:c.1250+11T>A	NP_000039.2:n.1250+11T>A
NM_001024943.1:c.1250+11T>A	NP_001020114.1:n.1250+11T>A
NM_001024944.1:c.1190+11T>A	NP_001020115.1:n.1190+11T>A
NM_001024946.1:c.1172+11T>A	NP_001020117.1:n.1172+11T>A
NM_000048.4:c.1250+11T>A MANE Select	NP_000039.2:n.1250+11T>A
NM_001024943.2:c.1250+11T>A	NP_001020114.1:n.1250+11T>A
NM_001024944.2:c.1190+11T>A	NP_001020115.1:n.1190+11T>A
NM_001024946.2:c.1172+11T>A	NP_001020117.1:n.1172+11T>A