Canonical Allele Identifier: CA4277381

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092817G>T , CM000669.2:g.66092817G>T	GRCh38
NC_000007.13:g.65557804G>T , CM000669.1:g.65557804G>T	GRCh37
NC_000007.12:g.65195239G>T	NCBI36
NG_009288.1:g.22029G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1300G>T MANE Select	NP_000039.2:p.Val434Leu
ENST00000304874.14:c.1300G>T MANE Select	ENSP00000307188.9:p.Val434Leu
NM_000048.3:c.1300G>T	NP_000039.2:p.Val434Leu
NM_001024943.1:c.1300G>T	NP_001020114.1:p.Val434Leu
NM_001024943.2:c.1300G>T	NP_001020114.1:p.Val434Leu
NM_001024944.1:c.1240G>T	NP_001020115.1:p.Val414Leu
NM_001024944.2:c.1240G>T	NP_001020115.1:p.Val414Leu
NM_001024946.1:c.1222G>T	NP_001020117.1:p.Val408Leu
NM_001024946.2:c.1222G>T	NP_001020117.1:p.Val408Leu
ENST00000304874.13:c.1300G>T	ENSP00000307188.9:p.Val434Leu
ENST00000362000.10:c.1105G>T	ENSP00000354710.6:p.Val369Leu
ENST00000380839.8:c.1222G>T	ENSP00000370219.4:p.Val408Leu
ENST00000380839.9:c.1222G>T	ENSP00000370219.4:p.Val408Leu
ENST00000395331.3:c.1240G>T	ENSP00000378740.3:p.Val414Leu
ENST00000395331.4:c.1240G>T	ENSP00000378740.3:p.Val414Leu
ENST00000395332.7:c.1300G>T	ENSP00000378741.3:p.Val434Leu
ENST00000395332.8:c.1300G>T	ENSP00000378741.3:p.Val434Leu
ENST00000450043.2:c.563+154G>T	ENSP00000396527.2:n.563+154G>T
ENST00000464970.1:n.503G>T
ENST00000488343.1:n.148-87G>T
ENST00000488343.2:c.148-87G>T	ENSP00000500864.1:n.148-87G>T
ENST00000493708.5:n.781G>T
ENST00000672498.1:c.*703G>T	ENSP00000500227.1:n.*703G>T
ENST00000672586.1:n.2059G>T
ENST00000672676.1:n.2324G>T
ENST00000673149.1:n.1112G>T
ENST00000673350.1:n.3417G>T
ENST00000673518.1:c.1222G>T	ENSP00000499889.1:p.Val408Leu