Canonical Allele Identifier: CA367650110

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092021A>G , CM000669.2:g.66092021A>G	GRCh38
NC_000007.13:g.65557008A>G , CM000669.1:g.65557008A>G	GRCh37
NC_000007.12:g.65194443A>G	NCBI36
NG_009288.1:g.21233A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1078A>G MANE Select	NP_000039.2:p.Met360Val
ENST00000304874.14:c.1078A>G MANE Select	ENSP00000307188.9:p.Met360Val
NM_000048.3:c.1078A>G	NP_000039.2:p.Met360Val
NM_001024943.1:c.1078A>G	NP_001020114.1:p.Met360Val
NM_001024943.2:c.1078A>G	NP_001020114.1:p.Met360Val
NM_001024944.1:c.1018A>G	NP_001020115.1:p.Met340Val
NM_001024944.2:c.1018A>G	NP_001020115.1:p.Met340Val
NM_001024946.1:c.1000A>G	NP_001020117.1:p.Met334Val
NM_001024946.2:c.1000A>G	NP_001020117.1:p.Met334Val
ENST00000304874.13:c.1078A>G	ENSP00000307188.9:p.Met360Val
ENST00000362000.10:c.883A>G	ENSP00000354710.6:p.Met295Val
ENST00000380839.8:c.1000A>G	ENSP00000370219.4:p.Met334Val
ENST00000380839.9:c.1000A>G	ENSP00000370219.4:p.Met334Val
ENST00000395331.3:c.1018A>G	ENSP00000378740.3:p.Met340Val
ENST00000395331.4:c.1018A>G	ENSP00000378740.3:p.Met340Val
ENST00000395332.7:c.1078A>G	ENSP00000378741.3:p.Met360Val
ENST00000395332.8:c.1078A>G	ENSP00000378741.3:p.Met360Val
ENST00000450043.2:c.391A>G	ENSP00000396527.2:p.Met131Val
ENST00000464970.1:n.281A>G
ENST00000488343.1:n.148-883A>G
ENST00000488343.2:c.148-883A>G	ENSP00000500864.1:n.148-883A>G
ENST00000493708.5:n.559A>G
ENST00000671817.1:c.1000A>G	ENSP00000500462.1:p.Met334Val
ENST00000672498.1:c.*377A>G	ENSP00000500227.1:n.*377A>G
ENST00000672586.1:n.1837A>G
ENST00000672676.1:n.2102A>G
ENST00000673149.1:n.890A>G
ENST00000673350.1:n.3195A>G
ENST00000673518.1:c.1000A>G	ENSP00000499889.1:p.Met334Val