Canonical Allele Identifier: CA367642098

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65551632G>A (hg19) ; chr7:g.66086645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086645G>A , CM000669.2:g.66086645G>A	GRCh38
NC_000007.13:g.65551632G>A , CM000669.1:g.65551632G>A	GRCh37
NC_000007.12:g.65189067G>A	NCBI36
NG_009288.1:g.15857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.507G>A MANE Select	ENSP00000307188.9:p.Trp169Ter
ENST00000362000.10:c.312G>A	ENSP00000354710.6:p.Trp104Ter
ENST00000380839.9:c.507G>A	ENSP00000370219.4:p.Trp169Ter
ENST00000395331.4:c.507G>A	ENSP00000378740.3:p.Trp169Ter
ENST00000395332.8:c.507G>A	ENSP00000378741.3:p.Trp169Ter
ENST00000671817.1:c.507G>A	ENSP00000500462.1:p.Trp169Ter
ENST00000672498.1:c.447-1084G>A	ENSP00000500227.1:n.447-1084G>A
ENST00000672586.1:n.412G>A
ENST00000672676.1:n.677G>A
ENST00000673149.1:n.319G>A
ENST00000673350.1:n.755G>A
ENST00000673518.1:c.507G>A	ENSP00000499889.1:p.Trp169Ter
ENST00000673594.1:n.356G>A
ENST00000304874.13:c.507G>A	ENSP00000307188.9:p.Trp169Ter
ENST00000362000.9:c.312G>A	ENSP00000354710.5:p.Trp104Ter
ENST00000380839.8:c.507G>A	ENSP00000370219.4:p.Trp169Ter
ENST00000395331.3:c.507G>A	ENSP00000378740.3:p.Trp169Ter
ENST00000395332.7:c.507G>A	ENSP00000378741.3:p.Trp169Ter
ENST00000487982.5:n.573G>A
NM_000048.3:c.507G>A	NP_000039.2:p.Trp169Ter
NM_001024943.1:c.507G>A	NP_001020114.1:p.Trp169Ter
NM_001024944.1:c.507G>A	NP_001020115.1:p.Trp169Ter
NM_001024946.1:c.507G>A	NP_001020117.1:p.Trp169Ter
NM_000048.4:c.507G>A MANE Select	NP_000039.2:p.Trp169Ter
NM_001024943.2:c.507G>A	NP_001020114.1:p.Trp169Ter
NM_001024944.2:c.507G>A	NP_001020115.1:p.Trp169Ter
NM_001024946.2:c.507G>A	NP_001020117.1:p.Trp169Ter