Canonical Allele Identifier: CA367651034

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557551T>A (hg19) ; chr7:g.66092564T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092564T>A , CM000669.2:g.66092564T>A	GRCh38
NC_000007.13:g.65557551T>A , CM000669.1:g.65557551T>A	GRCh37
NC_000007.12:g.65194986T>A	NCBI36
NG_009288.1:g.21776T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1151T>A MANE Select	ENSP00000307188.9:p.Phe384Tyr
ENST00000362000.10:c.956T>A	ENSP00000354710.6:p.Phe319Tyr
ENST00000380839.9:c.1073T>A	ENSP00000370219.4:p.Phe358Tyr
ENST00000395331.4:c.1091T>A	ENSP00000378740.3:p.Phe364Tyr
ENST00000395332.8:c.1151T>A	ENSP00000378741.3:p.Phe384Tyr
ENST00000488343.2:c.148-340T>A	ENSP00000500864.1:n.148-340T>A
ENST00000672498.1:c.*450T>A	ENSP00000500227.1:n.*450T>A
ENST00000672586.1:n.1910T>A
ENST00000672676.1:n.2175T>A
ENST00000673149.1:n.963T>A
ENST00000673350.1:n.3268T>A
ENST00000673518.1:c.1073T>A	ENSP00000499889.1:p.Phe358Tyr
ENST00000304874.13:c.1151T>A	ENSP00000307188.9:p.Phe384Tyr
ENST00000380839.8:c.1073T>A	ENSP00000370219.4:p.Phe358Tyr
ENST00000395331.3:c.1091T>A	ENSP00000378740.3:p.Phe364Tyr
ENST00000395332.7:c.1151T>A	ENSP00000378741.3:p.Phe384Tyr
ENST00000450043.2:c.464T>A	ENSP00000396527.2:p.Phe155Tyr
ENST00000464970.1:n.354T>A
ENST00000488343.1:n.148-340T>A
ENST00000493708.5:n.632T>A
NM_000048.3:c.1151T>A	NP_000039.2:p.Phe384Tyr
NM_001024943.1:c.1151T>A	NP_001020114.1:p.Phe384Tyr
NM_001024944.1:c.1091T>A	NP_001020115.1:p.Phe364Tyr
NM_001024946.1:c.1073T>A	NP_001020117.1:p.Phe358Tyr
NM_000048.4:c.1151T>A MANE Select	NP_000039.2:p.Phe384Tyr
NM_001024943.2:c.1151T>A	NP_001020114.1:p.Phe384Tyr
NM_001024944.2:c.1091T>A	NP_001020115.1:p.Phe364Tyr
NM_001024946.2:c.1073T>A	NP_001020117.1:p.Phe358Tyr