Canonical Allele Identifier: CA367652483

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557763T>G (hg19) ; chr7:g.66092776T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092776T>G , CM000669.2:g.66092776T>G	GRCh38
NC_000007.13:g.65557763T>G , CM000669.1:g.65557763T>G	GRCh37
NC_000007.12:g.65195198T>G	NCBI36
NG_009288.1:g.21988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1259T>G MANE Select	ENSP00000307188.9:p.Phe420Cys
ENST00000362000.10:c.1064T>G	ENSP00000354710.6:p.Phe355Cys
ENST00000380839.9:c.1181T>G	ENSP00000370219.4:p.Phe394Cys
ENST00000395331.4:c.1199T>G	ENSP00000378740.3:p.Phe400Cys
ENST00000395332.8:c.1259T>G	ENSP00000378741.3:p.Phe420Cys
ENST00000488343.2:c.148-128T>G	ENSP00000500864.1:n.148-128T>G
ENST00000672498.1:c.*662T>G	ENSP00000500227.1:n.*662T>G
ENST00000672586.1:n.2018T>G
ENST00000672676.1:n.2283T>G
ENST00000673149.1:n.1071T>G
ENST00000673350.1:n.3376T>G
ENST00000673518.1:c.1181T>G	ENSP00000499889.1:p.Phe394Cys
ENST00000304874.13:c.1259T>G	ENSP00000307188.9:p.Phe420Cys
ENST00000380839.8:c.1181T>G	ENSP00000370219.4:p.Phe394Cys
ENST00000395331.3:c.1199T>G	ENSP00000378740.3:p.Phe400Cys
ENST00000395332.7:c.1259T>G	ENSP00000378741.3:p.Phe420Cys
ENST00000450043.2:c.563+113T>G	ENSP00000396527.2:n.563+113T>G
ENST00000464970.1:n.462T>G
ENST00000488343.1:n.148-128T>G
ENST00000493708.5:n.740T>G
NM_000048.3:c.1259T>G	NP_000039.2:p.Phe420Cys
NM_001024943.1:c.1259T>G	NP_001020114.1:p.Phe420Cys
NM_001024944.1:c.1199T>G	NP_001020115.1:p.Phe400Cys
NM_001024946.1:c.1181T>G	NP_001020117.1:p.Phe394Cys
NM_000048.4:c.1259T>G MANE Select	NP_000039.2:p.Phe420Cys
NM_001024943.2:c.1259T>G	NP_001020114.1:p.Phe420Cys
NM_001024944.2:c.1199T>G	NP_001020115.1:p.Phe400Cys
NM_001024946.2:c.1181T>G	NP_001020117.1:p.Phe394Cys