Canonical Allele Identifier: CA4277332

Gene: ASL

Linked Data

• ClinVar Variation Id: 1104052
• ClinVar RCV Id: RCV001427979
• dbSNP Id: rs747116101
• ExAC: 7:65557570 C / A
• gnomAD v2: 7-65557570-C-A
• gnomAD v4: 7-66092583-C-A
• MyVariant Identifiers: chr7:g.65557570C>A (hg19) ; chr7:g.66092583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092583C>A , CM000669.2:g.66092583C>A	GRCh38
NC_000007.13:g.65557570C>A , CM000669.1:g.65557570C>A	GRCh37
NC_000007.12:g.65195005C>A	NCBI36
NG_009288.1:g.21795C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1170C>A MANE Select	ENSP00000307188.9:p.Ala390=
ENST00000362000.10:c.975C>A	ENSP00000354710.6:p.Ala325=
ENST00000380839.9:c.1092C>A	ENSP00000370219.4:p.Ala364=
ENST00000395331.4:c.1110C>A	ENSP00000378740.3:p.Ala370=
ENST00000395332.8:c.1170C>A	ENSP00000378741.3:p.Ala390=
ENST00000488343.2:c.148-321C>A	ENSP00000500864.1:n.148-321C>A
ENST00000672498.1:c.*469C>A	ENSP00000500227.1:n.*469C>A
ENST00000672586.1:n.1929C>A
ENST00000672676.1:n.2194C>A
ENST00000673149.1:n.982C>A
ENST00000673350.1:n.3287C>A
ENST00000673518.1:c.1092C>A	ENSP00000499889.1:p.Ala364=
ENST00000304874.13:c.1170C>A	ENSP00000307188.9:p.Ala390=
ENST00000380839.8:c.1092C>A	ENSP00000370219.4:p.Ala364=
ENST00000395331.3:c.1110C>A	ENSP00000378740.3:p.Ala370=
ENST00000395332.7:c.1170C>A	ENSP00000378741.3:p.Ala390=
ENST00000450043.2:c.483C>A	ENSP00000396527.2:p.Ala161=
ENST00000464970.1:n.373C>A
ENST00000488343.1:n.148-321C>A
ENST00000493708.5:n.651C>A
NM_000048.3:c.1170C>A	NP_000039.2:p.Ala390=
NM_001024943.1:c.1170C>A	NP_001020114.1:p.Ala390=
NM_001024944.1:c.1110C>A	NP_001020115.1:p.Ala370=
NM_001024946.1:c.1092C>A	NP_001020117.1:p.Ala364=
NM_000048.4:c.1170C>A MANE Select	NP_000039.2:p.Ala390=
NM_001024943.2:c.1170C>A	NP_001020114.1:p.Ala390=
NM_001024944.2:c.1110C>A	NP_001020115.1:p.Ala370=
NM_001024946.2:c.1092C>A	NP_001020117.1:p.Ala364=