Canonical Allele Identifier: CA4277343

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092628C>T , CM000669.2:g.66092628C>T	GRCh38
NC_000007.13:g.65557615C>T , CM000669.1:g.65557615C>T	GRCh37
NC_000007.12:g.65195050C>T	NCBI36
NG_009288.1:g.21840C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1215C>T MANE Select	NP_000039.2:p.Leu405=
ENST00000304874.14:c.1215C>T MANE Select	ENSP00000307188.9:p.Leu405=
NM_000048.3:c.1215C>T	NP_000039.2:p.Leu405=
NM_001024943.1:c.1215C>T	NP_001020114.1:p.Leu405=
NM_001024943.2:c.1215C>T	NP_001020114.1:p.Leu405=
NM_001024944.1:c.1155C>T	NP_001020115.1:p.Leu385=
NM_001024944.2:c.1155C>T	NP_001020115.1:p.Leu385=
NM_001024946.1:c.1137C>T	NP_001020117.1:p.Leu379=
NM_001024946.2:c.1137C>T	NP_001020117.1:p.Leu379=
ENST00000304874.13:c.1215C>T	ENSP00000307188.9:p.Leu405=
ENST00000362000.10:c.1020C>T	ENSP00000354710.6:p.Leu340=
ENST00000380839.8:c.1137C>T	ENSP00000370219.4:p.Leu379=
ENST00000380839.9:c.1137C>T	ENSP00000370219.4:p.Leu379=
ENST00000395331.3:c.1155C>T	ENSP00000378740.3:p.Leu385=
ENST00000395331.4:c.1155C>T	ENSP00000378740.3:p.Leu385=
ENST00000395332.7:c.1215C>T	ENSP00000378741.3:p.Leu405=
ENST00000395332.8:c.1215C>T	ENSP00000378741.3:p.Leu405=
ENST00000450043.2:c.528C>T	ENSP00000396527.2:p.Leu176=
ENST00000464970.1:n.418C>T
ENST00000488343.1:n.148-276C>T
ENST00000488343.2:c.148-276C>T	ENSP00000500864.1:n.148-276C>T
ENST00000493708.5:n.696C>T
ENST00000672498.1:c.*514C>T	ENSP00000500227.1:n.*514C>T
ENST00000672586.1:n.1974C>T
ENST00000672676.1:n.2239C>T
ENST00000673149.1:n.1027C>T
ENST00000673350.1:n.3332C>T
ENST00000673518.1:c.1137C>T	ENSP00000499889.1:p.Leu379=