Canonical Allele Identifier: CA367645825

Gene: ASL

Linked Data

• dbSNP Id: rs1348172286
• gnomAD v2: 7-65554154-T-A
• MyVariant Identifiers: chr7:g.65554154T>A (hg19) ; chr7:g.66089167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089167T>A , CM000669.2:g.66089167T>A	GRCh38
NC_000007.13:g.65554154T>A , CM000669.1:g.65554154T>A	GRCh37
NC_000007.12:g.65191589T>A	NCBI36
NG_009288.1:g.18379T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.910T>A MANE Select	ENSP00000307188.9:p.Phe304Ile
ENST00000362000.10:c.715T>A	ENSP00000354710.6:p.Phe239Ile
ENST00000380839.9:c.832T>A	ENSP00000370219.4:p.Phe278Ile
ENST00000395331.4:c.910T>A	ENSP00000378740.3:p.Phe304Ile
ENST00000395332.8:c.910T>A	ENSP00000378741.3:p.Phe304Ile
ENST00000488343.2:c.79T>A	ENSP00000500864.1:p.Phe27Ile
ENST00000671817.1:c.832T>A	ENSP00000500462.1:p.Phe278Ile
ENST00000672498.1:c.*209T>A	ENSP00000500227.1:n.*209T>A
ENST00000672586.1:n.1669T>A
ENST00000672676.1:n.1934T>A
ENST00000673149.1:n.722T>A
ENST00000673350.1:n.3027T>A
ENST00000673518.1:c.832T>A	ENSP00000499889.1:p.Phe278Ile
ENST00000304874.13:c.910T>A	ENSP00000307188.9:p.Phe304Ile
ENST00000362000.9:c.715T>A	ENSP00000354710.5:p.Phe239Ile
ENST00000380839.8:c.832T>A	ENSP00000370219.4:p.Phe278Ile
ENST00000395331.3:c.910T>A	ENSP00000378740.3:p.Phe304Ile
ENST00000395332.7:c.910T>A	ENSP00000378741.3:p.Phe304Ile
ENST00000450043.2:c.223T>A	ENSP00000396527.2:p.Phe75Ile
ENST00000488343.1:n.79T>A
ENST00000493708.5:n.291T>A
NM_000048.3:c.910T>A	NP_000039.2:p.Phe304Ile
NM_001024943.1:c.910T>A	NP_001020114.1:p.Phe304Ile
NM_001024944.1:c.910T>A	NP_001020115.1:p.Phe304Ile
NM_001024946.1:c.832T>A	NP_001020117.1:p.Phe278Ile
NM_000048.4:c.910T>A MANE Select	NP_000039.2:p.Phe304Ile
NM_001024943.2:c.910T>A	NP_001020114.1:p.Phe304Ile
NM_001024944.2:c.910T>A	NP_001020115.1:p.Phe304Ile
NM_001024946.2:c.832T>A	NP_001020117.1:p.Phe278Ile