Canonical Allele Identifier: CA159934540

Gene: ASL

Linked Data

• ClinVar Variation Id: 2163119
• ClinVar RCV Id: RCV003091621
• dbSNP Id: rs904413062
• gnomAD v3: 7-66089340-G-A
• gnomAD v4: 7-66089340-G-A
• MyVariant Identifiers: chr7:g.65554327G>A (hg19) ; chr7:g.66089340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089340G>A , CM000669.2:g.66089340G>A	GRCh38
NC_000007.13:g.65554327G>A , CM000669.1:g.65554327G>A	GRCh37
NC_000007.12:g.65191762G>A	NCBI36
NG_009288.1:g.18552G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.978+5G>A MANE Select	ENSP00000307188.9:n.978+5G>A
ENST00000362000.10:c.783+5G>A	ENSP00000354710.6:n.783+5G>A
ENST00000380839.9:c.900+5G>A	ENSP00000370219.4:n.900+5G>A
ENST00000395331.4:c.918+165G>A	ENSP00000378740.3:n.918+165G>A
ENST00000395332.8:c.978+5G>A	ENSP00000378741.3:n.978+5G>A
ENST00000488343.2:c.147+5G>A	ENSP00000500864.1:n.147+5G>A
ENST00000671817.1:c.900+5G>A	ENSP00000500462.1:n.900+5G>A
ENST00000672498.1:c.*277+5G>A	ENSP00000500227.1:n.*277+5G>A
ENST00000672586.1:n.1737+5G>A
ENST00000672676.1:n.2002+5G>A
ENST00000673149.1:n.790+5G>A
ENST00000673350.1:n.3095+5G>A
ENST00000673518.1:c.900+5G>A	ENSP00000499889.1:n.900+5G>A
ENST00000304874.13:c.978+5G>A	ENSP00000307188.9:n.978+5G>A
ENST00000380839.8:c.900+5G>A	ENSP00000370219.4:n.900+5G>A
ENST00000395331.3:c.918+165G>A	ENSP00000378740.3:n.918+165G>A
ENST00000395332.7:c.978+5G>A	ENSP00000378741.3:n.978+5G>A
ENST00000450043.2:c.291+5G>A	ENSP00000396527.2:n.291+5G>A
ENST00000464970.1:n.97+5G>A
ENST00000488343.1:n.147+5G>A
ENST00000493708.5:n.459+5G>A
NM_000048.3:c.978+5G>A	NP_000039.2:n.978+5G>A
NM_001024943.1:c.978+5G>A	NP_001020114.1:n.978+5G>A
NM_001024944.1:c.918+165G>A	NP_001020115.1:n.918+165G>A
NM_001024946.1:c.900+5G>A	NP_001020117.1:n.900+5G>A
NM_000048.4:c.978+5G>A MANE Select	NP_000039.2:n.978+5G>A
NM_001024943.2:c.978+5G>A	NP_001020114.1:n.978+5G>A
NM_001024944.2:c.918+165G>A	NP_001020115.1:n.918+165G>A
NM_001024946.2:c.900+5G>A	NP_001020117.1:n.900+5G>A