Canonical Allele Identifier: CA455451905

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092643G>C , CM000669.2:g.66092643G>C	GRCh38
NC_000007.13:g.65557630G>C , CM000669.1:g.65557630G>C	GRCh37
NC_000007.12:g.65195065G>C	NCBI36
NG_009288.1:g.21855G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1230G>C MANE Select	NP_000039.2:p.Leu410=
ENST00000304874.14:c.1230G>C MANE Select	ENSP00000307188.9:p.Leu410=
NM_000048.3:c.1230G>C	NP_000039.2:p.Leu410=
NM_001024943.1:c.1230G>C	NP_001020114.1:p.Leu410=
NM_001024943.2:c.1230G>C	NP_001020114.1:p.Leu410=
NM_001024944.1:c.1170G>C	NP_001020115.1:p.Leu390=
NM_001024944.2:c.1170G>C	NP_001020115.1:p.Leu390=
NM_001024946.1:c.1152G>C	NP_001020117.1:p.Leu384=
NM_001024946.2:c.1152G>C	NP_001020117.1:p.Leu384=
ENST00000304874.13:c.1230G>C	ENSP00000307188.9:p.Leu410=
ENST00000362000.10:c.1035G>C	ENSP00000354710.6:p.Leu345=
ENST00000380839.8:c.1152G>C	ENSP00000370219.4:p.Leu384=
ENST00000380839.9:c.1152G>C	ENSP00000370219.4:p.Leu384=
ENST00000395331.3:c.1170G>C	ENSP00000378740.3:p.Leu390=
ENST00000395331.4:c.1170G>C	ENSP00000378740.3:p.Leu390=
ENST00000395332.7:c.1230G>C	ENSP00000378741.3:p.Leu410=
ENST00000395332.8:c.1230G>C	ENSP00000378741.3:p.Leu410=
ENST00000450043.2:c.543G>C	ENSP00000396527.2:p.Leu181=
ENST00000464970.1:n.433G>C
ENST00000488343.1:n.148-261G>C
ENST00000488343.2:c.148-261G>C	ENSP00000500864.1:n.148-261G>C
ENST00000493708.5:n.711G>C
ENST00000672498.1:c.*529G>C	ENSP00000500227.1:n.*529G>C
ENST00000672586.1:n.1989G>C
ENST00000672676.1:n.2254G>C
ENST00000673149.1:n.1042G>C
ENST00000673350.1:n.3347G>C
ENST00000673518.1:c.1152G>C	ENSP00000499889.1:p.Leu384=