Canonical Allele Identifier: CA2683086488

Gene: ASL

Linked Data

• gnomAD v4: 7-66091970-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66091970C>G , CM000669.2:g.66091970C>G	GRCh38
NC_000007.13:g.65556957C>G , CM000669.1:g.65556957C>G	GRCh37
NC_000007.12:g.65194392C>G	NCBI36
NG_009288.1:g.21182C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1063-36C>G MANE Select	ENSP00000307188.9:n.1063-36C>G
ENST00000362000.10:c.868-36C>G	ENSP00000354710.6:n.868-36C>G
ENST00000380839.9:c.985-36C>G	ENSP00000370219.4:n.985-36C>G
ENST00000395331.4:c.1003-36C>G	ENSP00000378740.3:n.1003-36C>G
ENST00000395332.8:c.1063-36C>G	ENSP00000378741.3:n.1063-36C>G
ENST00000488343.2:c.148-934C>G	ENSP00000500864.1:n.148-934C>G
ENST00000671817.1:c.985-36C>G	ENSP00000500462.1:n.985-36C>G
ENST00000672498.1:c.*362-36C>G	ENSP00000500227.1:n.*362-36C>G
ENST00000672586.1:n.1822-36C>G
ENST00000672676.1:n.2087-36C>G
ENST00000673149.1:n.875-36C>G
ENST00000673350.1:n.3180-36C>G
ENST00000673518.1:c.985-36C>G	ENSP00000499889.1:n.985-36C>G
ENST00000304874.13:c.1063-36C>G	ENSP00000307188.9:n.1063-36C>G
ENST00000380839.8:c.985-36C>G	ENSP00000370219.4:n.985-36C>G
ENST00000395331.3:c.1003-36C>G	ENSP00000378740.3:n.1003-36C>G
ENST00000395332.7:c.1063-36C>G	ENSP00000378741.3:n.1063-36C>G
ENST00000450043.2:c.376-36C>G	ENSP00000396527.2:n.376-36C>G
ENST00000464970.1:n.266-36C>G
ENST00000488343.1:n.148-934C>G
ENST00000493708.5:n.544-36C>G
NM_000048.3:c.1063-36C>G	NP_000039.2:n.1063-36C>G
NM_001024943.1:c.1063-36C>G	NP_001020114.1:n.1063-36C>G
NM_001024944.1:c.1003-36C>G	NP_001020115.1:n.1003-36C>G
NM_001024946.1:c.985-36C>G	NP_001020117.1:n.985-36C>G
NM_000048.4:c.1063-36C>G MANE Select	NP_000039.2:n.1063-36C>G
NM_001024943.2:c.1063-36C>G	NP_001020114.1:n.1063-36C>G
NM_001024944.2:c.1003-36C>G	NP_001020115.1:n.1003-36C>G
NM_001024946.2:c.985-36C>G	NP_001020117.1:n.985-36C>G