Canonical Allele Identifier: CA367650537

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557057A>T (hg19) ; chr7:g.66092070A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092070A>T , CM000669.2:g.66092070A>T	GRCh38
NC_000007.13:g.65557057A>T , CM000669.1:g.65557057A>T	GRCh37
NC_000007.12:g.65194492A>T	NCBI36
NG_009288.1:g.21282A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1127A>T MANE Select	ENSP00000307188.9:p.Tyr376Phe
ENST00000362000.10:c.932A>T	ENSP00000354710.6:p.Tyr311Phe
ENST00000380839.9:c.1049A>T	ENSP00000370219.4:p.Tyr350Phe
ENST00000395331.4:c.1067A>T	ENSP00000378740.3:p.Tyr356Phe
ENST00000395332.8:c.1127A>T	ENSP00000378741.3:p.Tyr376Phe
ENST00000488343.2:c.148-834A>T	ENSP00000500864.1:n.148-834A>T
ENST00000672498.1:c.*426A>T	ENSP00000500227.1:n.*426A>T
ENST00000672586.1:n.1886A>T
ENST00000672676.1:n.2151A>T
ENST00000673149.1:n.939A>T
ENST00000673350.1:n.3244A>T
ENST00000673518.1:c.1049A>T	ENSP00000499889.1:p.Tyr350Phe
ENST00000304874.13:c.1127A>T	ENSP00000307188.9:p.Tyr376Phe
ENST00000380839.8:c.1049A>T	ENSP00000370219.4:p.Tyr350Phe
ENST00000395331.3:c.1067A>T	ENSP00000378740.3:p.Tyr356Phe
ENST00000395332.7:c.1127A>T	ENSP00000378741.3:p.Tyr376Phe
ENST00000450043.2:c.440A>T	ENSP00000396527.2:p.Tyr147Phe
ENST00000464970.1:n.330A>T
ENST00000488343.1:n.148-834A>T
ENST00000493708.5:n.608A>T
NM_000048.3:c.1127A>T	NP_000039.2:p.Tyr376Phe
NM_001024943.1:c.1127A>T	NP_001020114.1:p.Tyr376Phe
NM_001024944.1:c.1067A>T	NP_001020115.1:p.Tyr356Phe
NM_001024946.1:c.1049A>T	NP_001020117.1:p.Tyr350Phe
NM_000048.4:c.1127A>T MANE Select	NP_000039.2:p.Tyr376Phe
NM_001024943.2:c.1127A>T	NP_001020114.1:p.Tyr376Phe
NM_001024944.2:c.1067A>T	NP_001020115.1:p.Tyr356Phe
NM_001024946.2:c.1049A>T	NP_001020117.1:p.Tyr350Phe