Canonical Allele Identifier: CA367645253

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65553869C>G (hg19) ; chr7:g.66088882C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088882C>G , CM000669.2:g.66088882C>G	GRCh38
NC_000007.13:g.65553869C>G , CM000669.1:g.65553869C>G	GRCh37
NC_000007.12:g.65191304C>G	NCBI36
NG_009288.1:g.18094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.794C>G MANE Select	ENSP00000307188.9:p.Thr265Ser
ENST00000362000.10:c.599C>G	ENSP00000354710.6:p.Thr200Ser
ENST00000380839.9:c.716C>G	ENSP00000370219.4:p.Thr239Ser
ENST00000395331.4:c.794C>G	ENSP00000378740.3:p.Thr265Ser
ENST00000395332.8:c.794C>G	ENSP00000378741.3:p.Thr265Ser
ENST00000671817.1:c.716C>G	ENSP00000500462.1:p.Thr239Ser
ENST00000672498.1:c.*93C>G	ENSP00000500227.1:n.*93C>G
ENST00000672586.1:n.1553C>G
ENST00000672676.1:n.1818C>G
ENST00000673149.1:n.606C>G
ENST00000673350.1:n.2911C>G
ENST00000673518.1:c.716C>G	ENSP00000499889.1:p.Thr239Ser
ENST00000304874.13:c.794C>G	ENSP00000307188.9:p.Thr265Ser
ENST00000362000.9:c.599C>G	ENSP00000354710.5:p.Thr200Ser
ENST00000380839.8:c.716C>G	ENSP00000370219.4:p.Thr239Ser
ENST00000395331.3:c.794C>G	ENSP00000378740.3:p.Thr265Ser
ENST00000395332.7:c.794C>G	ENSP00000378741.3:p.Thr265Ser
ENST00000450043.2:c.107C>G	ENSP00000396527.2:p.Thr36Ser
ENST00000493708.5:n.175C>G
NM_000048.3:c.794C>G	NP_000039.2:p.Thr265Ser
NM_001024943.1:c.794C>G	NP_001020114.1:p.Thr265Ser
NM_001024944.1:c.794C>G	NP_001020115.1:p.Thr265Ser
NM_001024946.1:c.716C>G	NP_001020117.1:p.Thr239Ser
NM_000048.4:c.794C>G MANE Select	NP_000039.2:p.Thr265Ser
NM_001024943.2:c.794C>G	NP_001020114.1:p.Thr265Ser
NM_001024944.2:c.794C>G	NP_001020115.1:p.Thr265Ser
NM_001024946.2:c.716C>G	NP_001020117.1:p.Thr239Ser