Canonical Allele Identifier: CA159942893

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092857G>A , CM000669.2:g.66092857G>A	GRCh38
NC_000007.13:g.65557844G>A , CM000669.1:g.65557844G>A	GRCh37
NC_000007.12:g.65195279G>A	NCBI36
NG_009288.1:g.22069G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1340G>A MANE Select	NP_000039.2:p.Ser447Asn
ENST00000304874.14:c.1340G>A MANE Select	ENSP00000307188.9:p.Ser447Asn
NM_000048.3:c.1340G>A	NP_000039.2:p.Ser447Asn
NM_001024943.1:c.1340G>A	NP_001020114.1:p.Ser447Asn
NM_001024943.2:c.1340G>A	NP_001020114.1:p.Ser447Asn
NM_001024944.1:c.1280G>A	NP_001020115.1:p.Ser427Asn
NM_001024944.2:c.1280G>A	NP_001020115.1:p.Ser427Asn
NM_001024946.1:c.1262G>A	NP_001020117.1:p.Ser421Asn
NM_001024946.2:c.1262G>A	NP_001020117.1:p.Ser421Asn
ENST00000304874.13:c.1340G>A	ENSP00000307188.9:p.Ser447Asn
ENST00000362000.10:c.1145G>A	ENSP00000354710.6:p.Ser382Asn
ENST00000380839.8:c.1262G>A	ENSP00000370219.4:p.Ser421Asn
ENST00000380839.9:c.1262G>A	ENSP00000370219.4:p.Ser421Asn
ENST00000395331.3:c.1280G>A	ENSP00000378740.3:p.Ser427Asn
ENST00000395331.4:c.1280G>A	ENSP00000378740.3:p.Ser427Asn
ENST00000395332.7:c.1340G>A	ENSP00000378741.3:p.Ser447Asn
ENST00000395332.8:c.1340G>A	ENSP00000378741.3:p.Ser447Asn
ENST00000450043.2:c.563+194G>A	ENSP00000396527.2:n.563+194G>A
ENST00000464970.1:n.543G>A
ENST00000488343.1:n.148-47G>A
ENST00000488343.2:c.148-47G>A	ENSP00000500864.1:n.148-47G>A
ENST00000493708.5:n.821G>A
ENST00000672498.1:c.*743G>A	ENSP00000500227.1:n.*743G>A
ENST00000672586.1:n.2099G>A
ENST00000672676.1:n.2364G>A
ENST00000673149.1:n.1152G>A
ENST00000673350.1:n.3457G>A
ENST00000673518.1:c.1262G>A	ENSP00000499889.1:p.Ser421Asn