Canonical Allele Identifier: CA367650617

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092079G>T , CM000669.2:g.66092079G>T	GRCh38
NC_000007.13:g.65557066G>T , CM000669.1:g.65557066G>T	GRCh37
NC_000007.12:g.65194501G>T	NCBI36
NG_009288.1:g.21291G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1136G>T MANE Select	NP_000039.2:p.Arg379Leu
ENST00000304874.14:c.1136G>T MANE Select	ENSP00000307188.9:p.Arg379Leu
NM_000048.3:c.1136G>T	NP_000039.2:p.Arg379Leu
NM_001024943.1:c.1136G>T	NP_001020114.1:p.Arg379Leu
NM_001024943.2:c.1136G>T	NP_001020114.1:p.Arg379Leu
NM_001024944.1:c.1076G>T	NP_001020115.1:p.Arg359Leu
NM_001024944.2:c.1076G>T	NP_001020115.1:p.Arg359Leu
NM_001024946.1:c.1058G>T	NP_001020117.1:p.Arg353Leu
NM_001024946.2:c.1058G>T	NP_001020117.1:p.Arg353Leu
ENST00000304874.13:c.1136G>T	ENSP00000307188.9:p.Arg379Leu
ENST00000362000.10:c.941G>T	ENSP00000354710.6:p.Arg314Leu
ENST00000380839.8:c.1058G>T	ENSP00000370219.4:p.Arg353Leu
ENST00000380839.9:c.1058G>T	ENSP00000370219.4:p.Arg353Leu
ENST00000395331.3:c.1076G>T	ENSP00000378740.3:p.Arg359Leu
ENST00000395331.4:c.1076G>T	ENSP00000378740.3:p.Arg359Leu
ENST00000395332.7:c.1136G>T	ENSP00000378741.3:p.Arg379Leu
ENST00000395332.8:c.1136G>T	ENSP00000378741.3:p.Arg379Leu
ENST00000450043.2:c.449G>T	ENSP00000396527.2:p.Arg150Leu
ENST00000464970.1:n.339G>T
ENST00000488343.1:n.148-825G>T
ENST00000488343.2:c.148-825G>T	ENSP00000500864.1:n.148-825G>T
ENST00000493708.5:n.617G>T
ENST00000672498.1:c.*435G>T	ENSP00000500227.1:n.*435G>T
ENST00000672586.1:n.1895G>T
ENST00000672676.1:n.2160G>T
ENST00000673149.1:n.948G>T
ENST00000673350.1:n.3253G>T
ENST00000673518.1:c.1058G>T	ENSP00000499889.1:p.Arg353Leu