Canonical Allele Identifier: CA1102405668
Gene: ASL HGNC NCBI

Linked Data

dbSNP Id: rs1786554965
gnomAD v3: 7-66083009-G-A
gnomAD v4: 7-66083009-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66083009G>A , CM000669.2:g.66083009G>A GRCh38
NC_000007.13:g.65547996G>A , CM000669.1:g.65547996G>A GRCh37
NC_000007.12:g.65185431G>A NCBI36
NG_009288.1:g.12221G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.349-68G>A MANE Select ENSP00000307188.9:n.349-68G>A
ENST00000362000.10:c.154-68G>A ENSP00000354710.6:n.154-68G>A
ENST00000380839.9:c.349-68G>A ENSP00000370219.4:n.349-68G>A
ENST00000395331.4:c.349-68G>A ENSP00000378740.3:n.349-68G>A
ENST00000395332.8:c.349-68G>A ENSP00000378741.3:n.349-68G>A
ENST00000671817.1:c.349-68G>A ENSP00000500462.1:n.349-68G>A
ENST00000672498.1:c.349-68G>A ENSP00000500227.1:n.349-68G>A
ENST00000672586.1:n.254-68G>A
ENST00000672676.1:n.519-68G>A
ENST00000673149.1:n.161-68G>A
ENST00000673350.1:n.597-68G>A
ENST00000673518.1:c.349-68G>A ENSP00000499889.1:n.349-68G>A
ENST00000673594.1:n.198-68G>A
ENST00000304874.13:c.349-68G>A ENSP00000307188.9:n.349-68G>A
ENST00000362000.9:c.154-68G>A ENSP00000354710.5:n.154-68G>A
ENST00000380839.8:c.349-68G>A ENSP00000370219.4:n.349-68G>A
ENST00000395331.3:c.349-68G>A ENSP00000378740.3:n.349-68G>A
ENST00000395332.7:c.349-68G>A ENSP00000378741.3:n.349-68G>A
ENST00000487982.5:n.415-68G>A
ENST00000496336.1:n.662G>A
NM_000048.3:c.349-68G>A NP_000039.2:n.349-68G>A
NM_001024943.1:c.349-68G>A NP_001020114.1:n.349-68G>A
NM_001024944.1:c.349-68G>A NP_001020115.1:n.349-68G>A
NM_001024946.1:c.349-68G>A NP_001020117.1:n.349-68G>A
NM_000048.4:c.349-68G>A MANE Select NP_000039.2:n.349-68G>A
NM_001024943.2:c.349-68G>A NP_001020114.1:n.349-68G>A
NM_001024944.2:c.349-68G>A NP_001020115.1:n.349-68G>A
NM_001024946.2:c.349-68G>A NP_001020117.1:n.349-68G>A