Canonical Allele Identifier: CA2683084954

Gene: ASL

Linked Data

• dbSNP Id: rs2115742568
• gnomAD v4: 7-66089218-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089218T>G , CM000669.2:g.66089218T>G	GRCh38
NC_000007.13:g.65554205T>G , CM000669.1:g.65554205T>G	GRCh37
NC_000007.12:g.65191640T>G	NCBI36
NG_009288.1:g.18430T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.918+43T>G MANE Select	ENSP00000307188.9:n.918+43T>G
ENST00000362000.10:c.723+43T>G	ENSP00000354710.6:n.723+43T>G
ENST00000380839.9:c.840+43T>G	ENSP00000370219.4:n.840+43T>G
ENST00000395331.4:c.918+43T>G	ENSP00000378740.3:n.918+43T>G
ENST00000395332.8:c.918+43T>G	ENSP00000378741.3:n.918+43T>G
ENST00000488343.2:c.87+43T>G	ENSP00000500864.1:n.87+43T>G
ENST00000671817.1:c.840+43T>G	ENSP00000500462.1:n.840+43T>G
ENST00000672498.1:c.*217+43T>G	ENSP00000500227.1:n.*217+43T>G
ENST00000672586.1:n.1677+43T>G
ENST00000672676.1:n.1942+43T>G
ENST00000673149.1:n.730+43T>G
ENST00000673350.1:n.3035+43T>G
ENST00000673518.1:c.840+43T>G	ENSP00000499889.1:n.840+43T>G
ENST00000304874.13:c.918+43T>G	ENSP00000307188.9:n.918+43T>G
ENST00000380839.8:c.840+43T>G	ENSP00000370219.4:n.840+43T>G
ENST00000395331.3:c.918+43T>G	ENSP00000378740.3:n.918+43T>G
ENST00000395332.7:c.918+43T>G	ENSP00000378741.3:n.918+43T>G
ENST00000450043.2:c.231+43T>G	ENSP00000396527.2:n.231+43T>G
ENST00000488343.1:n.87+43T>G
ENST00000493708.5:n.342T>G
NM_000048.3:c.918+43T>G	NP_000039.2:n.918+43T>G
NM_001024943.1:c.918+43T>G	NP_001020114.1:n.918+43T>G
NM_001024944.1:c.918+43T>G	NP_001020115.1:n.918+43T>G
NM_001024946.1:c.840+43T>G	NP_001020117.1:n.840+43T>G
NM_000048.4:c.918+43T>G MANE Select	NP_000039.2:n.918+43T>G
NM_001024943.2:c.918+43T>G	NP_001020114.1:n.918+43T>G
NM_001024944.2:c.918+43T>G	NP_001020115.1:n.918+43T>G
NM_001024946.2:c.840+43T>G	NP_001020117.1:n.840+43T>G