Canonical Allele Identifier: CA2683084038

Gene: ASL

Linked Data

• gnomAD v4: 7-66082023-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082023C>T , CM000669.2:g.66082023C>T	GRCh38
NC_000007.13:g.65547010C>T , CM000669.1:g.65547010C>T	GRCh37
NC_000007.12:g.65184445C>T	NCBI36
NG_009288.1:g.11235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.207+26C>T MANE Select	ENSP00000307188.9:n.207+26C>T
ENST00000362000.10:c.13-345C>T	ENSP00000354710.6:n.13-345C>T
ENST00000380839.9:c.207+26C>T	ENSP00000370219.4:n.207+26C>T
ENST00000395331.4:c.207+26C>T	ENSP00000378740.3:n.207+26C>T
ENST00000395332.8:c.207+26C>T	ENSP00000378741.3:n.207+26C>T
ENST00000671817.1:c.207+26C>T	ENSP00000500462.1:n.207+26C>T
ENST00000672498.1:c.207+26C>T	ENSP00000500227.1:n.207+26C>T
ENST00000672586.1:n.113-345C>T
ENST00000672676.1:n.377+26C>T
ENST00000673350.1:n.455+26C>T
ENST00000673518.1:c.207+26C>T	ENSP00000499889.1:n.207+26C>T
ENST00000673594.1:n.56+26C>T
ENST00000304874.13:c.207+26C>T	ENSP00000307188.9:n.207+26C>T
ENST00000362000.9:c.13-345C>T	ENSP00000354710.5:n.13-345C>T
ENST00000380839.8:c.207+26C>T	ENSP00000370219.4:n.207+26C>T
ENST00000395331.3:c.207+26C>T	ENSP00000378740.3:n.207+26C>T
ENST00000395332.7:c.207+26C>T	ENSP00000378741.3:n.207+26C>T
ENST00000487982.5:n.273+26C>T
ENST00000496336.1:n.448+26C>T
NM_000048.3:c.207+26C>T	NP_000039.2:n.207+26C>T
NM_001024943.1:c.207+26C>T	NP_001020114.1:n.207+26C>T
NM_001024944.1:c.207+26C>T	NP_001020115.1:n.207+26C>T
NM_001024946.1:c.207+26C>T	NP_001020117.1:n.207+26C>T
NM_000048.4:c.207+26C>T MANE Select	NP_000039.2:n.207+26C>T
NM_001024943.2:c.207+26C>T	NP_001020114.1:n.207+26C>T
NM_001024944.2:c.207+26C>T	NP_001020115.1:n.207+26C>T
NM_001024946.2:c.207+26C>T	NP_001020117.1:n.207+26C>T