Canonical Allele Identifier: CA10624173

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092067A>G , CM000669.2:g.66092067A>G	GRCh38
NC_000007.13:g.65557054A>G , CM000669.1:g.65557054A>G	GRCh37
NC_000007.12:g.65194489A>G	NCBI36
NG_009288.1:g.21279A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1124A>G MANE Select	NP_000039.2:p.Tyr375Cys
ENST00000304874.14:c.1124A>G MANE Select	ENSP00000307188.9:p.Tyr375Cys
NM_000048.3:c.1124A>G	NP_000039.2:p.Tyr375Cys
NM_001024943.1:c.1124A>G	NP_001020114.1:p.Tyr375Cys
NM_001024943.2:c.1124A>G	NP_001020114.1:p.Tyr375Cys
NM_001024944.1:c.1064A>G	NP_001020115.1:p.Tyr355Cys
NM_001024944.2:c.1064A>G	NP_001020115.1:p.Tyr355Cys
NM_001024946.1:c.1046A>G	NP_001020117.1:p.Tyr349Cys
NM_001024946.2:c.1046A>G	NP_001020117.1:p.Tyr349Cys
ENST00000304874.13:c.1124A>G	ENSP00000307188.9:p.Tyr375Cys
ENST00000362000.10:c.929A>G	ENSP00000354710.6:p.Tyr310Cys
ENST00000380839.8:c.1046A>G	ENSP00000370219.4:p.Tyr349Cys
ENST00000380839.9:c.1046A>G	ENSP00000370219.4:p.Tyr349Cys
ENST00000395331.3:c.1064A>G	ENSP00000378740.3:p.Tyr355Cys
ENST00000395331.4:c.1064A>G	ENSP00000378740.3:p.Tyr355Cys
ENST00000395332.7:c.1124A>G	ENSP00000378741.3:p.Tyr375Cys
ENST00000395332.8:c.1124A>G	ENSP00000378741.3:p.Tyr375Cys
ENST00000450043.2:c.437A>G	ENSP00000396527.2:p.Tyr146Cys
ENST00000464970.1:n.327A>G
ENST00000488343.1:n.148-837A>G
ENST00000488343.2:c.148-837A>G	ENSP00000500864.1:n.148-837A>G
ENST00000493708.5:n.605A>G
ENST00000672498.1:c.*423A>G	ENSP00000500227.1:n.*423A>G
ENST00000672586.1:n.1883A>G
ENST00000672676.1:n.2148A>G
ENST00000673149.1:n.936A>G
ENST00000673350.1:n.3241A>G
ENST00000673518.1:c.1046A>G	ENSP00000499889.1:p.Tyr349Cys