Canonical Allele Identifier: CA367645847

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554155T>C (hg19) ; chr7:g.66089168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089168T>C , CM000669.2:g.66089168T>C	GRCh38
NC_000007.13:g.65554155T>C , CM000669.1:g.65554155T>C	GRCh37
NC_000007.12:g.65191590T>C	NCBI36
NG_009288.1:g.18380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.911T>C MANE Select	ENSP00000307188.9:p.Phe304Ser
ENST00000362000.10:c.716T>C	ENSP00000354710.6:p.Phe239Ser
ENST00000380839.9:c.833T>C	ENSP00000370219.4:p.Phe278Ser
ENST00000395331.4:c.911T>C	ENSP00000378740.3:p.Phe304Ser
ENST00000395332.8:c.911T>C	ENSP00000378741.3:p.Phe304Ser
ENST00000488343.2:c.80T>C	ENSP00000500864.1:p.Phe27Ser
ENST00000671817.1:c.833T>C	ENSP00000500462.1:p.Phe278Ser
ENST00000672498.1:c.*210T>C	ENSP00000500227.1:n.*210T>C
ENST00000672586.1:n.1670T>C
ENST00000672676.1:n.1935T>C
ENST00000673149.1:n.723T>C
ENST00000673350.1:n.3028T>C
ENST00000673518.1:c.833T>C	ENSP00000499889.1:p.Phe278Ser
ENST00000304874.13:c.911T>C	ENSP00000307188.9:p.Phe304Ser
ENST00000362000.9:c.716T>C	ENSP00000354710.5:p.Phe239Ser
ENST00000380839.8:c.833T>C	ENSP00000370219.4:p.Phe278Ser
ENST00000395331.3:c.911T>C	ENSP00000378740.3:p.Phe304Ser
ENST00000395332.7:c.911T>C	ENSP00000378741.3:p.Phe304Ser
ENST00000450043.2:c.224T>C	ENSP00000396527.2:p.Phe75Ser
ENST00000488343.1:n.80T>C
ENST00000493708.5:n.292T>C
NM_000048.3:c.911T>C	NP_000039.2:p.Phe304Ser
NM_001024943.1:c.911T>C	NP_001020114.1:p.Phe304Ser
NM_001024944.1:c.911T>C	NP_001020115.1:p.Phe304Ser
NM_001024946.1:c.833T>C	NP_001020117.1:p.Phe278Ser
NM_000048.4:c.911T>C MANE Select	NP_000039.2:p.Phe304Ser
NM_001024943.2:c.911T>C	NP_001020114.1:p.Phe304Ser
NM_001024944.2:c.911T>C	NP_001020115.1:p.Phe304Ser
NM_001024946.2:c.833T>C	NP_001020117.1:p.Phe278Ser