Canonical Allele Identifier: CA367652405

Gene: ASL

Linked Data

• dbSNP Id: rs1409084448
• gnomAD v3: 7-66092768-C-G
• gnomAD v4: 7-66092768-C-G
• MyVariant Identifiers: chr7:g.65557755C>G (hg19) ; chr7:g.66092768C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092768C>G , CM000669.2:g.66092768C>G	GRCh38
NC_000007.13:g.65557755C>G , CM000669.1:g.65557755C>G	GRCh37
NC_000007.12:g.65195190C>G	NCBI36
NG_009288.1:g.21980C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1251C>G MANE Select	ENSP00000307188.9:p.Ser417Arg
ENST00000362000.10:c.1056C>G	ENSP00000354710.6:p.Ser352Arg
ENST00000380839.9:c.1173C>G	ENSP00000370219.4:p.Ser391Arg
ENST00000395331.4:c.1191C>G	ENSP00000378740.3:p.Ser397Arg
ENST00000395332.8:c.1251C>G	ENSP00000378741.3:p.Ser417Arg
ENST00000488343.2:c.148-136C>G	ENSP00000500864.1:n.148-136C>G
ENST00000672498.1:c.*654C>G	ENSP00000500227.1:n.*654C>G
ENST00000672586.1:n.2010C>G
ENST00000672676.1:n.2275C>G
ENST00000673149.1:n.1063C>G
ENST00000673350.1:n.3368C>G
ENST00000673518.1:c.1173C>G	ENSP00000499889.1:p.Ser391Arg
ENST00000304874.13:c.1251C>G	ENSP00000307188.9:p.Ser417Arg
ENST00000380839.8:c.1173C>G	ENSP00000370219.4:p.Ser391Arg
ENST00000395331.3:c.1191C>G	ENSP00000378740.3:p.Ser397Arg
ENST00000395332.7:c.1251C>G	ENSP00000378741.3:p.Ser417Arg
ENST00000450043.2:c.563+105C>G	ENSP00000396527.2:n.563+105C>G
ENST00000464970.1:n.454C>G
ENST00000488343.1:n.148-136C>G
ENST00000493708.5:n.732C>G
NM_000048.3:c.1251C>G	NP_000039.2:p.Ser417Arg
NM_001024943.1:c.1251C>G	NP_001020114.1:p.Ser417Arg
NM_001024944.1:c.1191C>G	NP_001020115.1:p.Ser397Arg
NM_001024946.1:c.1173C>G	NP_001020117.1:p.Ser391Arg
NM_000048.4:c.1251C>G MANE Select	NP_000039.2:p.Ser417Arg
NM_001024943.2:c.1251C>G	NP_001020114.1:p.Ser417Arg
NM_001024944.2:c.1191C>G	NP_001020115.1:p.Ser397Arg
NM_001024946.2:c.1173C>G	NP_001020117.1:p.Ser391Arg