Canonical Allele Identifier: CA2697557275

Gene: ASL

Linked Data

• ClinVar Variation Id: 2738891
• ClinVar RCV Id: RCV003497435

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082956C>G , CM000669.2:g.66082956C>G	GRCh38
NC_000007.13:g.65547943C>G , CM000669.1:g.65547943C>G	GRCh37
NC_000007.12:g.65185378C>G	NCBI36
NG_009288.1:g.12168C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.348+20C>G MANE Select	ENSP00000307188.9:n.348+20C>G
ENST00000362000.10:c.153+20C>G	ENSP00000354710.6:n.153+20C>G
ENST00000380839.9:c.348+20C>G	ENSP00000370219.4:n.348+20C>G
ENST00000395331.4:c.348+20C>G	ENSP00000378740.3:n.348+20C>G
ENST00000395332.8:c.348+20C>G	ENSP00000378741.3:n.348+20C>G
ENST00000671817.1:c.348+20C>G	ENSP00000500462.1:n.348+20C>G
ENST00000672498.1:c.348+20C>G	ENSP00000500227.1:n.348+20C>G
ENST00000672586.1:n.253+20C>G
ENST00000672676.1:n.518+20C>G
ENST00000673149.1:n.160+20C>G
ENST00000673350.1:n.596+20C>G
ENST00000673518.1:c.348+20C>G	ENSP00000499889.1:n.348+20C>G
ENST00000673594.1:n.197+20C>G
ENST00000304874.13:c.348+20C>G	ENSP00000307188.9:n.348+20C>G
ENST00000362000.9:c.153+20C>G	ENSP00000354710.5:n.153+20C>G
ENST00000380839.8:c.348+20C>G	ENSP00000370219.4:n.348+20C>G
ENST00000395331.3:c.348+20C>G	ENSP00000378740.3:n.348+20C>G
ENST00000395332.7:c.348+20C>G	ENSP00000378741.3:n.348+20C>G
ENST00000487982.5:n.414+20C>G
ENST00000496336.1:n.609C>G
NM_000048.3:c.348+20C>G	NP_000039.2:n.348+20C>G
NM_001024943.1:c.348+20C>G	NP_001020114.1:n.348+20C>G
NM_001024944.1:c.348+20C>G	NP_001020115.1:n.348+20C>G
NM_001024946.1:c.348+20C>G	NP_001020117.1:n.348+20C>G
NM_000048.4:c.348+20C>G MANE Select	NP_000039.2:n.348+20C>G
NM_001024943.2:c.348+20C>G	NP_001020114.1:n.348+20C>G
NM_001024944.2:c.348+20C>G	NP_001020115.1:n.348+20C>G
NM_001024946.2:c.348+20C>G	NP_001020117.1:n.348+20C>G