Canonical Allele Identifier: CA367639256

Gene: ASL

Linked Data

• ClinVar Variation Id: 1500107
• ClinVar RCV Id: RCV002013281
• dbSNP Id: rs2115698756
• MyVariant Identifiers: chr7:g.65547924G>T (hg19) ; chr7:g.66082937G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082937G>T , CM000669.2:g.66082937G>T	GRCh38
NC_000007.13:g.65547924G>T , CM000669.1:g.65547924G>T	GRCh37
NC_000007.12:g.65185359G>T	NCBI36
NG_009288.1:g.12149G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.348+1G>T MANE Select	ENSP00000307188.9:n.348+1G>T
ENST00000362000.10:c.153+1G>T	ENSP00000354710.6:n.153+1G>T
ENST00000380839.9:c.348+1G>T	ENSP00000370219.4:n.348+1G>T
ENST00000395331.4:c.348+1G>T	ENSP00000378740.3:n.348+1G>T
ENST00000395332.8:c.348+1G>T	ENSP00000378741.3:n.348+1G>T
ENST00000671817.1:c.348+1G>T	ENSP00000500462.1:n.348+1G>T
ENST00000672498.1:c.348+1G>T	ENSP00000500227.1:n.348+1G>T
ENST00000672586.1:n.253+1G>T
ENST00000672676.1:n.518+1G>T
ENST00000673149.1:n.160+1G>T
ENST00000673350.1:n.596+1G>T
ENST00000673518.1:c.348+1G>T	ENSP00000499889.1:n.348+1G>T
ENST00000673594.1:n.197+1G>T
ENST00000304874.13:c.348+1G>T	ENSP00000307188.9:n.348+1G>T
ENST00000362000.9:c.153+1G>T	ENSP00000354710.5:n.153+1G>T
ENST00000380839.8:c.348+1G>T	ENSP00000370219.4:n.348+1G>T
ENST00000395331.3:c.348+1G>T	ENSP00000378740.3:n.348+1G>T
ENST00000395332.7:c.348+1G>T	ENSP00000378741.3:n.348+1G>T
ENST00000487982.5:n.414+1G>T
ENST00000496336.1:n.590G>T
NM_000048.3:c.348+1G>T	NP_000039.2:n.348+1G>T
NM_001024943.1:c.348+1G>T	NP_001020114.1:n.348+1G>T
NM_001024944.1:c.348+1G>T	NP_001020115.1:n.348+1G>T
NM_001024946.1:c.348+1G>T	NP_001020117.1:n.348+1G>T
NM_000048.4:c.348+1G>T MANE Select	NP_000039.2:n.348+1G>T
NM_001024943.2:c.348+1G>T	NP_001020114.1:n.348+1G>T
NM_001024944.2:c.348+1G>T	NP_001020115.1:n.348+1G>T
NM_001024946.2:c.348+1G>T	NP_001020117.1:n.348+1G>T