Canonical Allele Identifier: CA4277163

Gene: ASL

Linked Data

• ClinVar Variation Id: 2282358
• ClinVar RCV Id: RCV002831185
• dbSNP Id: rs761296434
• ExAC: 7:65554110 A / C
• gnomAD v2: 7-65554110-A-C
• gnomAD v3: 7-66089123-A-C
• gnomAD v4: 7-66089123-A-C
• MyVariant Identifiers: chr7:g.65554110A>C (hg19) ; chr7:g.66089123A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089123A>C , CM000669.2:g.66089123A>C	GRCh38
NC_000007.13:g.65554110A>C , CM000669.1:g.65554110A>C	GRCh37
NC_000007.12:g.65191545A>C	NCBI36
NG_009288.1:g.18335A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.866A>C MANE Select	ENSP00000307188.9:p.Asn289Thr
ENST00000362000.10:c.671A>C	ENSP00000354710.6:p.Asn224Thr
ENST00000380839.9:c.788A>C	ENSP00000370219.4:p.Asn263Thr
ENST00000395331.4:c.866A>C	ENSP00000378740.3:p.Asn289Thr
ENST00000395332.8:c.866A>C	ENSP00000378741.3:p.Asn289Thr
ENST00000488343.2:c.35A>C	ENSP00000500864.1:p.Asn12Thr
ENST00000671817.1:c.788A>C	ENSP00000500462.1:p.Asn263Thr
ENST00000672498.1:c.*165A>C	ENSP00000500227.1:n.*165A>C
ENST00000672586.1:n.1625A>C
ENST00000672676.1:n.1890A>C
ENST00000673149.1:n.678A>C
ENST00000673350.1:n.2983A>C
ENST00000673518.1:c.788A>C	ENSP00000499889.1:p.Asn263Thr
ENST00000304874.13:c.866A>C	ENSP00000307188.9:p.Asn289Thr
ENST00000362000.9:c.671A>C	ENSP00000354710.5:p.Asn224Thr
ENST00000380839.8:c.788A>C	ENSP00000370219.4:p.Asn263Thr
ENST00000395331.3:c.866A>C	ENSP00000378740.3:p.Asn289Thr
ENST00000395332.7:c.866A>C	ENSP00000378741.3:p.Asn289Thr
ENST00000450043.2:c.179A>C	ENSP00000396527.2:p.Asn60Thr
ENST00000488343.1:n.35A>C
ENST00000493708.5:n.247A>C
NM_000048.3:c.866A>C	NP_000039.2:p.Asn289Thr
NM_001024943.1:c.866A>C	NP_001020114.1:p.Asn289Thr
NM_001024944.1:c.866A>C	NP_001020115.1:p.Asn289Thr
NM_001024946.1:c.788A>C	NP_001020117.1:p.Asn263Thr
NM_000048.4:c.866A>C MANE Select	NP_000039.2:p.Asn289Thr
NM_001024943.2:c.866A>C	NP_001020114.1:p.Asn289Thr
NM_001024944.2:c.866A>C	NP_001020115.1:p.Asn289Thr
NM_001024946.2:c.788A>C	NP_001020117.1:p.Asn263Thr