Canonical Allele Identifier: CA159931699

Gene: ASL

Linked Data

• ClinVar Variation Id: 842417
• ClinVar RCV Id: RCV001044835
• dbSNP Id: rs944576125
• gnomAD v2: 7-65552373-G-C
• gnomAD v3: 7-66087386-G-C
• gnomAD v4: 7-66087386-G-C
• MyVariant Identifiers: chr7:g.65552373G>C (hg19) ; chr7:g.66087386G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087386G>C , CM000669.2:g.66087386G>C	GRCh38
NC_000007.13:g.65552373G>C , CM000669.1:g.65552373G>C	GRCh37
NC_000007.12:g.65189808G>C	NCBI36
NG_009288.1:g.16598G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.655G>C MANE Select	ENSP00000307188.9:p.Glu219Gln
ENST00000362000.10:c.460G>C	ENSP00000354710.6:p.Glu154Gln
ENST00000380839.9:c.577G>C	ENSP00000370219.4:p.Glu193Gln
ENST00000395331.4:c.655G>C	ENSP00000378740.3:p.Glu219Gln
ENST00000395332.8:c.655G>C	ENSP00000378741.3:p.Glu219Gln
ENST00000671817.1:c.577G>C	ENSP00000500462.1:p.Glu193Gln
ENST00000672498.1:c.447-343G>C	ENSP00000500227.1:n.447-343G>C
ENST00000672586.1:n.1072G>C
ENST00000672676.1:n.1337G>C
ENST00000673149.1:n.467G>C
ENST00000673350.1:n.1415G>C
ENST00000673518.1:c.577G>C	ENSP00000499889.1:p.Glu193Gln
ENST00000673594.1:n.504G>C
ENST00000304874.13:c.655G>C	ENSP00000307188.9:p.Glu219Gln
ENST00000362000.9:c.460G>C	ENSP00000354710.5:p.Glu154Gln
ENST00000380839.8:c.577G>C	ENSP00000370219.4:p.Glu193Gln
ENST00000395331.3:c.655G>C	ENSP00000378740.3:p.Glu219Gln
ENST00000395332.7:c.655G>C	ENSP00000378741.3:p.Glu219Gln
NM_000048.3:c.655G>C	NP_000039.2:p.Glu219Gln
NM_001024943.1:c.655G>C	NP_001020114.1:p.Glu219Gln
NM_001024944.1:c.655G>C	NP_001020115.1:p.Glu219Gln
NM_001024946.1:c.577G>C	NP_001020117.1:p.Glu193Gln
NM_000048.4:c.655G>C MANE Select	NP_000039.2:p.Glu219Gln
NM_001024943.2:c.655G>C	NP_001020114.1:p.Glu219Gln
NM_001024944.2:c.655G>C	NP_001020115.1:p.Glu219Gln
NM_001024946.2:c.577G>C	NP_001020117.1:p.Glu193Gln