Canonical Allele Identifier: CA367645682

Gene: ASL

Linked Data

• ClinVar Variation Id: 932401
• ClinVar RCV Id: RCV001200180
• dbSNP Id: rs1786763426
• MyVariant Identifiers: chr7:g.65554137G>T (hg19) ; chr7:g.66089150G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089150G>T , CM000669.2:g.66089150G>T	GRCh38
NC_000007.13:g.65554137G>T , CM000669.1:g.65554137G>T	GRCh37
NC_000007.12:g.65191572G>T	NCBI36
NG_009288.1:g.18362G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.893G>T MANE Select	ENSP00000307188.9:p.Ser298Ile
ENST00000362000.10:c.698G>T	ENSP00000354710.6:p.Ser233Ile
ENST00000380839.9:c.815G>T	ENSP00000370219.4:p.Ser272Ile
ENST00000395331.4:c.893G>T	ENSP00000378740.3:p.Ser298Ile
ENST00000395332.8:c.893G>T	ENSP00000378741.3:p.Ser298Ile
ENST00000488343.2:c.62G>T	ENSP00000500864.1:p.Ser21Ile
ENST00000671817.1:c.815G>T	ENSP00000500462.1:p.Ser272Ile
ENST00000672498.1:c.*192G>T	ENSP00000500227.1:n.*192G>T
ENST00000672586.1:n.1652G>T
ENST00000672676.1:n.1917G>T
ENST00000673149.1:n.705G>T
ENST00000673350.1:n.3010G>T
ENST00000673518.1:c.815G>T	ENSP00000499889.1:p.Ser272Ile
ENST00000304874.13:c.893G>T	ENSP00000307188.9:p.Ser298Ile
ENST00000362000.9:c.698G>T	ENSP00000354710.5:p.Ser233Ile
ENST00000380839.8:c.815G>T	ENSP00000370219.4:p.Ser272Ile
ENST00000395331.3:c.893G>T	ENSP00000378740.3:p.Ser298Ile
ENST00000395332.7:c.893G>T	ENSP00000378741.3:p.Ser298Ile
ENST00000450043.2:c.206G>T	ENSP00000396527.2:p.Ser69Ile
ENST00000488343.1:n.62G>T
ENST00000493708.5:n.274G>T
NM_000048.3:c.893G>T	NP_000039.2:p.Ser298Ile
NM_001024943.1:c.893G>T	NP_001020114.1:p.Ser298Ile
NM_001024944.1:c.893G>T	NP_001020115.1:p.Ser298Ile
NM_001024946.1:c.815G>T	NP_001020117.1:p.Ser272Ile
NM_000048.4:c.893G>T MANE Select	NP_000039.2:p.Ser298Ile
NM_001024943.2:c.893G>T	NP_001020114.1:p.Ser298Ile
NM_001024944.2:c.893G>T	NP_001020115.1:p.Ser298Ile
NM_001024946.2:c.815G>T	NP_001020117.1:p.Ser272Ile