Canonical Allele Identifier: CA367651170

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557567G>T (hg19) ; chr7:g.66092580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092580G>T , CM000669.2:g.66092580G>T	GRCh38
NC_000007.13:g.65557567G>T , CM000669.1:g.65557567G>T	GRCh37
NC_000007.12:g.65195002G>T	NCBI36
NG_009288.1:g.21792G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1167G>T MANE Select	ENSP00000307188.9:p.Glu389Asp
ENST00000362000.10:c.972G>T	ENSP00000354710.6:p.Glu324Asp
ENST00000380839.9:c.1089G>T	ENSP00000370219.4:p.Glu363Asp
ENST00000395331.4:c.1107G>T	ENSP00000378740.3:p.Glu369Asp
ENST00000395332.8:c.1167G>T	ENSP00000378741.3:p.Glu389Asp
ENST00000488343.2:c.148-324G>T	ENSP00000500864.1:n.148-324G>T
ENST00000672498.1:c.*466G>T	ENSP00000500227.1:n.*466G>T
ENST00000672586.1:n.1926G>T
ENST00000672676.1:n.2191G>T
ENST00000673149.1:n.979G>T
ENST00000673350.1:n.3284G>T
ENST00000673518.1:c.1089G>T	ENSP00000499889.1:p.Glu363Asp
ENST00000304874.13:c.1167G>T	ENSP00000307188.9:p.Glu389Asp
ENST00000380839.8:c.1089G>T	ENSP00000370219.4:p.Glu363Asp
ENST00000395331.3:c.1107G>T	ENSP00000378740.3:p.Glu369Asp
ENST00000395332.7:c.1167G>T	ENSP00000378741.3:p.Glu389Asp
ENST00000450043.2:c.480G>T	ENSP00000396527.2:p.Glu160Asp
ENST00000464970.1:n.370G>T
ENST00000488343.1:n.148-324G>T
ENST00000493708.5:n.648G>T
NM_000048.3:c.1167G>T	NP_000039.2:p.Glu389Asp
NM_001024943.1:c.1167G>T	NP_001020114.1:p.Glu389Asp
NM_001024944.1:c.1107G>T	NP_001020115.1:p.Glu369Asp
NM_001024946.1:c.1089G>T	NP_001020117.1:p.Glu363Asp
NM_000048.4:c.1167G>T MANE Select	NP_000039.2:p.Glu389Asp
NM_001024943.2:c.1167G>T	NP_001020114.1:p.Glu389Asp
NM_001024944.2:c.1107G>T	NP_001020115.1:p.Glu369Asp
NM_001024946.2:c.1089G>T	NP_001020117.1:p.Glu363Asp