Canonical Allele Identifier: CA367646606

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554314G>A (hg19) ; chr7:g.66089327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089327G>A , CM000669.2:g.66089327G>A	GRCh38
NC_000007.13:g.65554314G>A , CM000669.1:g.65554314G>A	GRCh37
NC_000007.12:g.65191749G>A	NCBI36
NG_009288.1:g.18539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.970G>A MANE Select	ENSP00000307188.9:p.Asp324Asn
ENST00000362000.10:c.775G>A	ENSP00000354710.6:p.Asp259Asn
ENST00000380839.9:c.892G>A	ENSP00000370219.4:p.Asp298Asn
ENST00000395331.4:c.918+152G>A	ENSP00000378740.3:n.918+152G>A
ENST00000395332.8:c.970G>A	ENSP00000378741.3:p.Asp324Asn
ENST00000488343.2:c.139G>A	ENSP00000500864.1:p.Asp47Asn
ENST00000671817.1:c.892G>A	ENSP00000500462.1:p.Asp298Asn
ENST00000672498.1:c.*269G>A	ENSP00000500227.1:n.*269G>A
ENST00000672586.1:n.1729G>A
ENST00000672676.1:n.1994G>A
ENST00000673149.1:n.782G>A
ENST00000673350.1:n.3087G>A
ENST00000673518.1:c.892G>A	ENSP00000499889.1:p.Asp298Asn
ENST00000304874.13:c.970G>A	ENSP00000307188.9:p.Asp324Asn
ENST00000380839.8:c.892G>A	ENSP00000370219.4:p.Asp298Asn
ENST00000395331.3:c.918+152G>A	ENSP00000378740.3:n.918+152G>A
ENST00000395332.7:c.970G>A	ENSP00000378741.3:p.Asp324Asn
ENST00000450043.2:c.283G>A	ENSP00000396527.2:p.Asp95Asn
ENST00000464970.1:n.89G>A
ENST00000488343.1:n.139G>A
ENST00000493708.5:n.451G>A
NM_000048.3:c.970G>A	NP_000039.2:p.Asp324Asn
NM_001024943.1:c.970G>A	NP_001020114.1:p.Asp324Asn
NM_001024944.1:c.918+152G>A	NP_001020115.1:n.918+152G>A
NM_001024946.1:c.892G>A	NP_001020117.1:p.Asp298Asn
NM_000048.4:c.970G>A MANE Select	NP_000039.2:p.Asp324Asn
NM_001024943.2:c.970G>A	NP_001020114.1:p.Asp324Asn
NM_001024944.2:c.918+152G>A	NP_001020115.1:n.918+152G>A
NM_001024946.2:c.892G>A	NP_001020117.1:p.Asp298Asn