Canonical Allele Identifier: CA367653561

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092871A>T , CM000669.2:g.66092871A>T	GRCh38
NC_000007.13:g.65557858A>T , CM000669.1:g.65557858A>T	GRCh37
NC_000007.12:g.65195293A>T	NCBI36
NG_009288.1:g.22083A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1354A>T MANE Select	NP_000039.2:p.Ile452Phe
ENST00000304874.14:c.1354A>T MANE Select	ENSP00000307188.9:p.Ile452Phe
NM_000048.3:c.1354A>T	NP_000039.2:p.Ile452Phe
NM_001024943.1:c.1354A>T	NP_001020114.1:p.Ile452Phe
NM_001024943.2:c.1354A>T	NP_001020114.1:p.Ile452Phe
NM_001024944.1:c.1294A>T	NP_001020115.1:p.Ile432Phe
NM_001024944.2:c.1294A>T	NP_001020115.1:p.Ile432Phe
NM_001024946.1:c.1276A>T	NP_001020117.1:p.Ile426Phe
NM_001024946.2:c.1276A>T	NP_001020117.1:p.Ile426Phe
ENST00000304874.13:c.1354A>T	ENSP00000307188.9:p.Ile452Phe
ENST00000362000.10:c.1159A>T	ENSP00000354710.6:p.Ile387Phe
ENST00000380839.8:c.1276A>T	ENSP00000370219.4:p.Ile426Phe
ENST00000380839.9:c.1276A>T	ENSP00000370219.4:p.Ile426Phe
ENST00000395331.3:c.1294A>T	ENSP00000378740.3:p.Ile432Phe
ENST00000395331.4:c.1294A>T	ENSP00000378740.3:p.Ile432Phe
ENST00000395332.7:c.1354A>T	ENSP00000378741.3:p.Ile452Phe
ENST00000395332.8:c.1354A>T	ENSP00000378741.3:p.Ile452Phe
ENST00000450043.2:c.563+208A>T	ENSP00000396527.2:n.563+208A>T
ENST00000464970.1:n.557A>T
ENST00000488343.1:n.148-33A>T
ENST00000488343.2:c.148-33A>T	ENSP00000500864.1:n.148-33A>T
ENST00000493708.5:n.835A>T
ENST00000672498.1:c.*757A>T	ENSP00000500227.1:n.*757A>T
ENST00000672586.1:n.2113A>T
ENST00000672676.1:n.2378A>T
ENST00000673149.1:n.1166A>T
ENST00000673350.1:n.3471A>T
ENST00000673518.1:c.1276A>T	ENSP00000499889.1:p.Ile426Phe