Canonical Allele Identifier: CA2578900123

Gene: ASL

Linked Data

• ClinVar Variation Id: 3011124
• ClinVar RCV Id: RCV003869787
• gnomAD v4: 7-66092758-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092758C>T , CM000669.2:g.66092758C>T	GRCh38
NC_000007.13:g.65557745C>T , CM000669.1:g.65557745C>T	GRCh37
NC_000007.12:g.65195180C>T	NCBI36
NG_009288.1:g.21970C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1251-10C>T MANE Select	ENSP00000307188.9:n.1251-10C>T
ENST00000362000.10:c.1056-10C>T	ENSP00000354710.6:n.1056-10C>T
ENST00000380839.9:c.1173-10C>T	ENSP00000370219.4:n.1173-10C>T
ENST00000395331.4:c.1191-10C>T	ENSP00000378740.3:n.1191-10C>T
ENST00000395332.8:c.1251-10C>T	ENSP00000378741.3:n.1251-10C>T
ENST00000488343.2:c.148-146C>T	ENSP00000500864.1:n.148-146C>T
ENST00000672498.1:c.*644C>T	ENSP00000500227.1:n.*644C>T
ENST00000672586.1:n.2010-10C>T
ENST00000672676.1:n.2275-10C>T
ENST00000673149.1:n.1063-10C>T
ENST00000673350.1:n.3368-10C>T
ENST00000673518.1:c.1173-10C>T	ENSP00000499889.1:n.1173-10C>T
ENST00000304874.13:c.1251-10C>T	ENSP00000307188.9:n.1251-10C>T
ENST00000380839.8:c.1173-10C>T	ENSP00000370219.4:n.1173-10C>T
ENST00000395331.3:c.1191-10C>T	ENSP00000378740.3:n.1191-10C>T
ENST00000395332.7:c.1251-10C>T	ENSP00000378741.3:n.1251-10C>T
ENST00000450043.2:c.563+95C>T	ENSP00000396527.2:n.563+95C>T
ENST00000464970.1:n.454-10C>T
ENST00000488343.1:n.148-146C>T
ENST00000493708.5:n.732-10C>T
NM_000048.3:c.1251-10C>T	NP_000039.2:n.1251-10C>T
NM_001024943.1:c.1251-10C>T	NP_001020114.1:n.1251-10C>T
NM_001024944.1:c.1191-10C>T	NP_001020115.1:n.1191-10C>T
NM_001024946.1:c.1173-10C>T	NP_001020117.1:n.1173-10C>T
NM_000048.4:c.1251-10C>T MANE Select	NP_000039.2:n.1251-10C>T
NM_001024943.2:c.1251-10C>T	NP_001020114.1:n.1251-10C>T
NM_001024944.2:c.1191-10C>T	NP_001020115.1:n.1191-10C>T
NM_001024946.2:c.1173-10C>T	NP_001020117.1:n.1173-10C>T