Canonical Allele Identifier: CA367647134

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089631T>C , CM000669.2:g.66089631T>C	GRCh38
NC_000007.13:g.65554618T>C , CM000669.1:g.65554618T>C	GRCh37
NC_000007.12:g.65192053T>C	NCBI36
NG_009288.1:g.18843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.998T>C MANE Select	ENSP00000307188.9:p.Phe333Ser
ENST00000362000.10:c.803T>C	ENSP00000354710.6:p.Phe268Ser
ENST00000380839.9:c.920T>C	ENSP00000370219.4:p.Phe307Ser
ENST00000395331.4:c.938T>C	ENSP00000378740.3:p.Phe313Ser
ENST00000395332.8:c.998T>C	ENSP00000378741.3:p.Phe333Ser
ENST00000488343.2:c.147+296T>C	ENSP00000500864.1:n.147+296T>C
ENST00000671817.1:c.920T>C	ENSP00000500462.1:p.Phe307Ser
ENST00000672498.1:c.*297T>C	ENSP00000500227.1:n.*297T>C
ENST00000672586.1:n.1757T>C
ENST00000672676.1:n.2022T>C
ENST00000673149.1:n.810T>C
ENST00000673350.1:n.3115T>C
ENST00000673518.1:c.920T>C	ENSP00000499889.1:p.Phe307Ser
ENST00000304874.13:c.998T>C	ENSP00000307188.9:p.Phe333Ser
ENST00000380839.8:c.920T>C	ENSP00000370219.4:p.Phe307Ser
ENST00000395331.3:c.938T>C	ENSP00000378740.3:p.Phe313Ser
ENST00000395332.7:c.998T>C	ENSP00000378741.3:p.Phe333Ser
ENST00000450043.2:c.311T>C	ENSP00000396527.2:p.Phe104Ser
ENST00000464970.1:n.117T>C
ENST00000488343.1:n.147+296T>C
ENST00000493708.5:n.479T>C
NM_000048.3:c.998T>C	NP_000039.2:p.Phe333Ser
NM_001024943.1:c.998T>C	NP_001020114.1:p.Phe333Ser
NM_001024944.1:c.938T>C	NP_001020115.1:p.Phe313Ser
NM_001024946.1:c.920T>C	NP_001020117.1:p.Phe307Ser
NM_000048.4:c.998T>C MANE Select	NP_000039.2:p.Phe333Ser
NM_001024943.2:c.998T>C	NP_001020114.1:p.Phe333Ser
NM_001024944.2:c.938T>C	NP_001020115.1:p.Phe313Ser
NM_001024946.2:c.920T>C	NP_001020117.1:p.Phe307Ser