Canonical Allele Identifier: CA2739266451

Gene: ASL

Linked Data

• ClinVar Variation Id: 2802185
• ClinVar RCV Id: RCV003603523

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089269C>T , CM000669.2:g.66089269C>T	GRCh38
NC_000007.13:g.65554256C>T , CM000669.1:g.65554256C>T	GRCh37
NC_000007.12:g.65191691C>T	NCBI36
NG_009288.1:g.18481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.919-7C>T MANE Select	ENSP00000307188.9:n.919-7C>T
ENST00000362000.10:c.724-7C>T	ENSP00000354710.6:n.724-7C>T
ENST00000380839.9:c.841-7C>T	ENSP00000370219.4:n.841-7C>T
ENST00000395331.4:c.918+94C>T	ENSP00000378740.3:n.918+94C>T
ENST00000395332.8:c.919-7C>T	ENSP00000378741.3:n.919-7C>T
ENST00000488343.2:c.88-7C>T	ENSP00000500864.1:n.88-7C>T
ENST00000671817.1:c.841-7C>T	ENSP00000500462.1:n.841-7C>T
ENST00000672498.1:c.*218-7C>T	ENSP00000500227.1:n.*218-7C>T
ENST00000672586.1:n.1678-7C>T
ENST00000672676.1:n.1943-7C>T
ENST00000673149.1:n.731-7C>T
ENST00000673350.1:n.3036-7C>T
ENST00000673518.1:c.841-7C>T	ENSP00000499889.1:n.841-7C>T
ENST00000304874.13:c.919-7C>T	ENSP00000307188.9:n.919-7C>T
ENST00000380839.8:c.841-7C>T	ENSP00000370219.4:n.841-7C>T
ENST00000395331.3:c.918+94C>T	ENSP00000378740.3:n.918+94C>T
ENST00000395332.7:c.919-7C>T	ENSP00000378741.3:n.919-7C>T
ENST00000450043.2:c.232-7C>T	ENSP00000396527.2:n.232-7C>T
ENST00000464970.1:n.31C>T
ENST00000488343.1:n.88-7C>T
ENST00000493708.5:n.393C>T
NM_000048.3:c.919-7C>T	NP_000039.2:n.919-7C>T
NM_001024943.1:c.919-7C>T	NP_001020114.1:n.919-7C>T
NM_001024944.1:c.918+94C>T	NP_001020115.1:n.918+94C>T
NM_001024946.1:c.841-7C>T	NP_001020117.1:n.841-7C>T
NM_000048.4:c.919-7C>T MANE Select	NP_000039.2:n.919-7C>T
NM_001024943.2:c.919-7C>T	NP_001020114.1:n.919-7C>T
NM_001024944.2:c.918+94C>T	NP_001020115.1:n.918+94C>T
NM_001024946.2:c.841-7C>T	NP_001020117.1:n.841-7C>T