Canonical Allele Identifier: CA4277213

Gene: ASL

Linked Data

• ClinVar Variation Id: 426324
• ClinVar RCV Id: RCV000489610 ; RCV001836830
• dbSNP Id: rs764356037
• ExAC: 7:65554322 G / C
• gnomAD v2: 7-65554322-G-C
• gnomAD v4: 7-66089335-G-C
• MyVariant Identifiers: chr7:g.65554322G>C (hg19) ; chr7:g.66089335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089335G>C , CM000669.2:g.66089335G>C	GRCh38
NC_000007.13:g.65554322G>C , CM000669.1:g.65554322G>C	GRCh37
NC_000007.12:g.65191757G>C	NCBI36
NG_009288.1:g.18547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.978G>C MANE Select	ENSP00000307188.9:p.Gln326His
ENST00000362000.10:c.783G>C	ENSP00000354710.6:p.Gln261His
ENST00000380839.9:c.900G>C	ENSP00000370219.4:p.Gln300His
ENST00000395331.4:c.918+160G>C	ENSP00000378740.3:n.918+160G>C
ENST00000395332.8:c.978G>C	ENSP00000378741.3:p.Gln326His
ENST00000488343.2:c.147G>C	ENSP00000500864.1:p.Gln49His
ENST00000671817.1:c.900G>C	ENSP00000500462.1:p.Gln300His
ENST00000672498.1:c.*277G>C	ENSP00000500227.1:n.*277G>C
ENST00000672586.1:n.1737G>C
ENST00000672676.1:n.2002G>C
ENST00000673149.1:n.790G>C
ENST00000673350.1:n.3095G>C
ENST00000673518.1:c.900G>C	ENSP00000499889.1:p.Gln300His
ENST00000304874.13:c.978G>C	ENSP00000307188.9:p.Gln326His
ENST00000380839.8:c.900G>C	ENSP00000370219.4:p.Gln300His
ENST00000395331.3:c.918+160G>C	ENSP00000378740.3:n.918+160G>C
ENST00000395332.7:c.978G>C	ENSP00000378741.3:p.Gln326His
ENST00000450043.2:c.291G>C	ENSP00000396527.2:p.Gln97His
ENST00000464970.1:n.97G>C
ENST00000488343.1:n.147G>C
ENST00000493708.5:n.459G>C
NM_000048.3:c.978G>C	NP_000039.2:p.Gln326His
NM_001024943.1:c.978G>C	NP_001020114.1:p.Gln326His
NM_001024944.1:c.918+160G>C	NP_001020115.1:n.918+160G>C
NM_001024946.1:c.900G>C	NP_001020117.1:p.Gln300His
NM_000048.4:c.978G>C MANE Select	NP_000039.2:p.Gln326His
NM_001024943.2:c.978G>C	NP_001020114.1:p.Gln326His
NM_001024944.2:c.918+160G>C	NP_001020115.1:n.918+160G>C
NM_001024946.2:c.900G>C	NP_001020117.1:p.Gln300His